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{{Infobox_gene}}
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'''Membrane protein MLC1''' is a [[protein]] that in humans is encoded by the ''MLC1'' [[gene]].<ref name="pmid7584026">{{cite journal |vauthors=Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S | title = Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 | journal = DNA Res. | volume = 1 | issue = 1 | pages = 27–35 | year = 1994 | pmid = 7584026 | doi = 10.1093/dnares/1.1.27| url = | issn = }}</ref><ref name="pmid11254442">{{cite journal |vauthors=Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS | title = Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts | journal = Am. J. Hum. Genet. | volume = 68 | issue = 4 | pages = 831–8 |date=April 2001 | pmid = 11254442 | pmc = 1275636 | doi = 10.1086/319519 | url = | issn = }}</ref>
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'''MLC1''' (also called ''WKL1''<ref name="pmid11326298">{{cite journal |vauthors=Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP | title = A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree | journal = Mol. Psychiatry | volume = 6 | issue = 3 | pages = 302–6 |date=May 2001 | pmid = 11326298 | doi = 10.1038/sj.mp.4000869 | url = | issn = }}</ref><ref name="pmid12111645">{{cite journal |vauthors=McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM | title = A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia | journal = Eur. J. Hum. Genet. | volume = 10 | issue = 8 | pages = 491–4 |date=August 2002 | pmid = 12111645 | doi = 10.1038/sj.ejhg.5200837 | url = | issn = }}</ref>) is the only human [[gene]] currently associated with [[megalencephalic leukoencephalopathy with subcortical cysts]] (MLC).<ref name="entrez">{{cite web | title = Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23209| accessdate = }}</ref> Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.
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==Function==
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral [[membrane transport protein]].<ref name="pmid11326298"/> Mutations in this gene have been associated with [[megalencephalic leukoencephalopathy with subcortical cysts]], an autosomal recessive neurological disorder.<ref name="entrez"/>
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Megalencephalic leukoencephalopathy with subcortical cysts 1
| HGNCid = 17082
| Symbol = MLC1
| AltSymbols =; KIAA0027; LVM; MLC; VL
| OMIM = 605908
| ECnumber = 
| Homologene = 15775
| MGIid = 2157910
| GeneAtlas_image1 = PBB_GE_MLC1_213395_at_tn.png
| Function = {{GNF_GO|id=GO:0003674 |text = molecular_function}} {{GNF_GO|id=GO:0003735 |text = structural constituent of ribosome}} {{GNF_GO|id=GO:0005216 |text = ion channel activity}}
| Component = {{GNF_GO|id=GO:0000299 |text = integral to membrane of membrane fraction}} {{GNF_GO|id=GO:0005622 |text = intracellular}} {{GNF_GO|id=GO:0005840 |text = ribosome}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0006412 |text = translation}} {{GNF_GO|id=GO:0006811 |text = ion transport}} {{GNF_GO|id=GO:0008150 |text = biological_process}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 23209
    | Hs_Ensembl = ENSG00000100427
    | Hs_RefseqProtein = NP_055981
    | Hs_RefseqmRNA = NM_015166
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 22
    | Hs_GenLoc_start = 48839954
    | Hs_GenLoc_end = 48866161
    | Hs_Uniprot = Q15049
    | Mm_EntrezGene = 170790
    | Mm_Ensembl = ENSMUSG00000035805
    | Mm_RefseqmRNA = NM_133241
    | Mm_RefseqProtein = NP_573504
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 15
    | Mm_GenLoc_start = 88783649
    | Mm_GenLoc_end = 88806773
    | Mm_Uniprot = Q80U92
  }}
}}
'''Megalencephalic leukoencephalopathy with subcortical cysts 1''', also known as '''MLC1''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23209| accessdate = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
The MLC1 protein contains six putative transmembrane domains (S1–S6) and a pore region (P) between S5 and S6.  Furthermore, MLC1 has highest homology with the [[Kv1.1|KCNA1]] shaker-related voltage-gated potassium channel (K<sub>v</sub>1.1).  This analysis suggests that MLC1 may be a cation channel.<ref name="pmid11326298"/>
{{PBB_Summary
| section_title =
| summary_text = The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transporter. Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.<ref name="entrez">{{cite web | title = Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23209| accessdate = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| citations =
*{{cite journal | author=Nakajima D, Okazaki N, Yamakawa H, ''et al.'' |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99-106 |year= 2003 |pmid= 12168954 |doi= }}
*{{cite journal   |vauthors=Nakajima D, Okazaki N, Yamakawa H, etal |title=Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. |journal=DNA Res. |volume=9 |issue= 3 |pages= 99–106 |year= 2003 |pmid= 12168954 |doi=10.1093/dnares/9.3.99 }}
*{{cite journal  | author=Nomura N, Miyajima N, Sazuka T, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1. |journal=DNA Res. |volume=1 |issue= 1 |pages= 27-35 |year= 1995 |pmid= 7584026 |doi= }}
*{{cite journal   |vauthors=Nomura N, Miyajima N, Sazuka T, etal |title=Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement). |journal=DNA Res. |volume=1 |issue= 1 |pages= 47–56 |year= 1995 |pmid= 7584028 |doi=10.1093/dnares/1.1.47 }}
*{{cite journal | author=Nomura N, Miyajima N, Sazuka T, ''et al.'' |title=Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement). |journal=DNA Res. |volume=1 |issue= 1 |pages= 47-56 |year= 1995 |pmid= 7584028 |doi=  }}
*{{cite journal   |vauthors=Kawai T, Nomura F, Hoshino K, etal |title=Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity. |journal=Oncogene |volume=18 |issue= 23 |pages= 3471–80 |year= 1999 |pmid= 10376525 |doi= 10.1038/sj.onc.1202701 }}
*{{cite journal | author=Kawai T, Nomura F, Hoshino K, ''et al.'' |title=Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity. |journal=Oncogene |volume=18 |issue= 23 |pages= 3471-80 |year= 1999 |pmid= 10376525 |doi= 10.1038/sj.onc.1202701 }}
*{{cite journal   |vauthors=Dunham I, Shimizu N, Roe BA, etal |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031 }}
*{{cite journal | author=Dunham I, Shimizu N, Roe BA, ''et al.'' |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489-95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031 }}
*{{cite journal   |vauthors=Leegwater PA, Boor PK, Yuan BQ, etal |title=Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. |journal=Hum. Genet. |volume=110 |issue= 3 |pages= 279–83 |year= 2002 |pmid= 11935341 |doi= 10.1007/s00439-002-0682-x }}
*{{cite journal | author=Leegwater PA, Yuan BQ, van der Steen J, ''et al.'' |title=Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts. |journal=Am. J. Hum. Genet. |volume=68 |issue= 4 |pages= 831-8 |year= 2001 |pmid= 11254442 |doi=  }}
*{{cite journal   |vauthors=Zhang D, Li F, Weidner D, etal |title=Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone. |journal=J. Biol. Chem. |volume=277 |issue= 40 |pages= 37430–8 |year= 2002 |pmid= 12149273 |doi= 10.1074/jbc.M207413200 }}
*{{cite journal  | author=Meyer J, Huberth A, Ortega G, ''et al.'' |title=A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree. |journal=Mol. Psychiatry |volume=6 |issue= 3 |pages= 302-6 |year= 2001 |pmid= 11326298 |doi= 10.1038/sj.mp.4000869 }}
*{{cite journal   |vauthors=Ben-Zeev B, Levy-Nissenbaum E, Lahat H, etal |title=Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. |journal=Hum. Genet. |volume=111 |issue= 2 |pages= 214–8 |year= 2002 |pmid= 12189496 |doi= 10.1007/s00439-002-0770-y }}
*{{cite journal  | author=Leegwater PA, Boor PK, Yuan BQ, ''et al.'' |title=Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts. |journal=Hum. Genet. |volume=110 |issue= 3 |pages= 279-83 |year= 2002 |pmid= 11935341 |doi= 10.1007/s00439-002-0682-x }}
*{{cite journal   |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 }}
*{{cite journal | author=McQuillin A, Kalsi G, Moorey H, ''et al.'' |title=A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia. |journal=Eur. J. Hum. Genet. |volume=10 |issue= 8 |pages= 491-4 |year= 2003 |pmid= 12111645 |doi= 10.1038/sj.ejhg.5200837 }}
*{{cite journal   |vauthors=Rubie C, Lichtner P, Gärtner J, etal |title=Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? |journal=Hum. Mutat. |volume=21 |issue= 1 |pages= 45–52 |year= 2003 |pmid= 12497630 |doi= 10.1002/humu.10145 }}
*{{cite journal  | author=Zhang D, Li F, Weidner D, ''et al.'' |title=Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone. |journal=J. Biol. Chem. |volume=277 |issue= 40 |pages= 37430-8 |year= 2002 |pmid= 12149273 |doi= 10.1074/jbc.M207413200 }}
*{{cite journal   |vauthors=Gevaert K, Goethals M, Martens L, etal |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566–9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
*{{cite journal | author=Ben-Zeev B, Levy-Nissenbaum E, Lahat H, ''et al.'' |title=Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews. |journal=Hum. Genet. |volume=111 |issue= 2 |pages= 214-8 |year= 2002 |pmid= 12189496 |doi= 10.1007/s00439-002-0770-y }}
*{{cite journal   |vauthors=Saijo H, Nakayama H, Ezoe T, etal |title=A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. |journal=Brain Dev. |volume=25 |issue= 5 |pages= 362–6 |year= 2003 |pmid= 12850517 |doi=10.1016/S0387-7604(03)00006-8 }}
*{{cite journal | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal   |vauthors=Patrono C, Di Giacinto G, Eymard-Pierre E, etal |title=Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. |journal=Neurology |volume=61 |issue= 4 |pages= 534–7 |year= 2004 |pmid= 12939431 |doi=  10.1212/01.wnl.0000076184.21183.ca}}
*{{cite journal | author=Rubie C, Lichtner P, Gärtner J, ''et al.'' |title=Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders? |journal=Hum. Mutat. |volume=21 |issue= 1 |pages= 45-52 |year= 2003 |pmid= 12497630 |doi= 10.1002/humu.10145 }}
*{{cite journal   |vauthors=Tsujino S, Kanazawa N, Yoneyama H, etal |title=A common mutation and a novel mutation in Japanese patients with van der Knaap disease. |journal=J. Hum. Genet. |volume=48 |issue= 12 |pages= 605–8 |year= 2004 |pmid= 14615938 |doi= 10.1007/s10038-003-0085-4 }}
*{{cite journal | author=Gevaert K, Goethals M, Martens L, ''et al.'' |title=Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. |journal=Nat. Biotechnol. |volume=21 |issue= 5 |pages= 566-9 |year= 2004 |pmid= 12665801 |doi= 10.1038/nbt810 }}
*{{cite journal   |vauthors=Ota T, Suzuki Y, Nishikawa T, etal |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Saijo H, Nakayama H, Ezoe T, ''et al.'' |title=A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study. |journal=Brain Dev. |volume=25 |issue= 5 |pages= 362-6 |year= 2003 |pmid= 12850517 |doi=  }}
*{{cite journal   |vauthors=Gorospe JR, Singhal BS, Kainu T, etal |title=Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. |journal=Neurology |volume=62 |issue= 6 |pages= 878–82 |year= 2004 |pmid= 15037685 |doi=  10.1212/01.wnl.0000115106.88813.5b}}
*{{cite journal | author=Patrono C, Di Giacinto G, Eymard-Pierre E, ''et al.'' |title=Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts. |journal=Neurology |volume=61 |issue= 4 |pages= 534-7 |year= 2004 |pmid= 12939431 |doi=  }}
*{{cite journal | author=Tsujino S, Kanazawa N, Yoneyama H, ''et al.'' |title=A common mutation and a novel mutation in Japanese patients with van der Knaap disease. |journal=J. Hum. Genet. |volume=48 |issue= 12 |pages= 605-8 |year= 2004 |pmid= 14615938 |doi= 10.1007/s10038-003-0085-4 }}
*{{cite journal | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40-5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
*{{cite journal | author=Gorospe JR, Singhal BS, Kainu T, ''et al.'' |title=Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation. |journal=Neurology |volume=62 |issue= 6 |pages= 878-82 |year= 2004 |pmid= 15037685 |doi=  }}
}}
}}
{{refend}}
{{refend}}
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mlc  GeneReviews/NIH/NCBI/UW entry on Megalencephalic Leukoencephalopathy with Subcortical Cysts]
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| update_protein_box = yes
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Revision as of 06:37, 4 September 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

n/a

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UniProt

n/a

n/a

RefSeq (mRNA)

n/a

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RefSeq (protein)

n/a

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

Membrane protein MLC1 is a protein that in humans is encoded by the MLC1 gene.[1][2]

MLC1 (also called WKL1[3][4]) is the only human gene currently associated with megalencephalic leukoencephalopathy with subcortical cysts (MLC).[5] Evidence exists for at least one other gene for MLC, but it has not been mapped or identified.

Function

The function of this gene product is unknown; however, homology to other proteins suggests that it may be an integral membrane transport protein.[3] Mutations in this gene have been associated with megalencephalic leukoencephalopathy with subcortical cysts, an autosomal recessive neurological disorder.[5]

The MLC1 protein contains six putative transmembrane domains (S1–S6) and a pore region (P) between S5 and S6. Furthermore, MLC1 has highest homology with the KCNA1 shaker-related voltage-gated potassium channel (Kv1.1). This analysis suggests that MLC1 may be a cation channel.[3]

References

  1. ↑ Nomura N, Miyajima N, Sazuka T, Tanaka A, Kawarabayasi Y, Sato S, Nagase T, Seki N, Ishikawa K, Tabata S (1994). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1". DNA Res. 1 (1): 27–35. doi:10.1093/dnares/1.1.27. PMID 7584026.
  2. ↑ Leegwater PA, Yuan BQ, van der Steen J, Mulders J, Könst AA, Boor PK, Mejaski-Bosnjak V, van der Maarel SM, Frants RR, Oudejans CB, Schutgens RB, Pronk JC, van der Knaap MS (April 2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". Am. J. Hum. Genet. 68 (4): 831–8. doi:10.1086/319519. PMC 1275636. PMID 11254442.
  3. ↑ 3.0 3.1 3.2 Meyer J, Huberth A, Ortega G, Syagailo YV, Jatzke S, Mössner R, Strom TM, Ulzheimer-Teuber I, Stöber G, Schmitt A, Lesch KP (May 2001). "A missense mutation in a novel gene encoding a putative cation channel is associated with catatonic schizophrenia in a large pedigree". Mol. Psychiatry. 6 (3): 302–6. doi:10.1038/sj.mp.4000869. PMID 11326298.
  4. ↑ McQuillin A, Kalsi G, Moorey H, Lamb G, Mayet S, Quested D, Baker P, Curtis D, Gurling HM (August 2002). "A novel polymorphism in exon 11 of the WKL1 gene, shows no association with schizophrenia". Eur. J. Hum. Genet. 10 (8): 491–4. doi:10.1038/sj.ejhg.5200837. PMID 12111645.
  5. ↑ 5.0 5.1 "Entrez Gene: MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1".

Further reading

  • Nakajima D, Okazaki N, Yamakawa H, et al. (2003). "Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones". DNA Res. 9 (3): 99–106. doi:10.1093/dnares/9.3.99. PMID 12168954.
  • Nomura N, Miyajima N, Sazuka T, et al. (1995). "Prediction of the coding sequences of unidentified human genes. I. The coding sequences of 40 new genes (KIAA0001-KIAA0040) deduced by analysis of randomly sampled cDNA clones from human immature myeloid cell line KG-1 (supplement)". DNA Res. 1 (1): 47–56. doi:10.1093/dnares/1.1.47. PMID 7584028.
  • Kawai T, Nomura F, Hoshino K, et al. (1999). "Death-associated protein kinase 2 is a new calcium/calmodulin-dependent protein kinase that signals apoptosis through its catalytic activity". Oncogene. 18 (23): 3471–80. doi:10.1038/sj.onc.1202701. PMID 10376525.
  • Dunham I, Shimizu N, Roe BA, et al. (1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–95. doi:10.1038/990031. PMID 10591208.
  • Leegwater PA, Boor PK, Yuan BQ, et al. (2002). "Identification of novel mutations in MLC1 responsible for megalencephalic leukoencephalopathy with subcortical cysts". Hum. Genet. 110 (3): 279–83. doi:10.1007/s00439-002-0682-x. PMID 11935341.
  • Zhang D, Li F, Weidner D, et al. (2002). "Physical and functional interaction between myeloid cell leukemia 1 protein (MCL1) and Fortilin. The potential role of MCL1 as a fortilin chaperone". J. Biol. Chem. 277 (40): 37430–8. doi:10.1074/jbc.M207413200. PMID 12149273.
  • Ben-Zeev B, Levy-Nissenbaum E, Lahat H, et al. (2002). "Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews". Hum. Genet. 111 (2): 214–8. doi:10.1007/s00439-002-0770-y. PMID 12189496.
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
  • Rubie C, Lichtner P, Gärtner J, et al. (2003). "Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?". Hum. Mutat. 21 (1): 45–52. doi:10.1002/humu.10145. PMID 12497630.
  • Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801.
  • Saijo H, Nakayama H, Ezoe T, et al. (2003). "A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study". Brain Dev. 25 (5): 362–6. doi:10.1016/S0387-7604(03)00006-8. PMID 12850517.
  • Patrono C, Di Giacinto G, Eymard-Pierre E, et al. (2004). "Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts". Neurology. 61 (4): 534–7. doi:10.1212/01.wnl.0000076184.21183.ca. PMID 12939431.
  • Tsujino S, Kanazawa N, Yoneyama H, et al. (2004). "A common mutation and a novel mutation in Japanese patients with van der Knaap disease". J. Hum. Genet. 48 (12): 605–8. doi:10.1007/s10038-003-0085-4. PMID 14615938.
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External links



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