MLC1

Megalencephalic leukoencephalopathy with subcortical cysts 1
Identifiers
Symbols	MLC1 ; KIAA0027; LVM; MLC; VL
External IDs	Template:OMIM5 Template:MGI HomoloGene: 15775
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE MLC1 213395 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Megalencephalic leukoencephalopathy with subcortical cysts 1, also known as MLC1, is a human gene.

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.

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. PMID 12168954.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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". DNA Res. 1 (1): 27–35. PMID 7584026.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 7584028.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Leegwater PA, Yuan BQ, van der Steen J; et al. (2001). "Mutations of MLC1 (KIAA0027), encoding a putative membrane protein, cause megalencephalic leukoencephalopathy with subcortical cysts". Am. J. Hum. Genet. 68 (4): 831–8. PMID 11254442.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Meyer J, Huberth A, Ortega G; et al. (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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McQuillin A, Kalsi G, Moorey H; et al. (2003). "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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12850517.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Patrono C, Di Giacinto G, Eymard-Pierre E; et al. (2004). "Genetic heterogeneity of megalencephalic leukoencephalopathy and subcortical cysts". Neurology. 61 (4): 534–7. PMID 12939431.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gorospe JR, Singhal BS, Kainu T; et al. (2004). "Indian Agarwal megalencephalic leukodystrophy with cysts is caused by a common MLC1 mutation". Neurology. 62 (6): 878–82. PMID 15037685.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)