D2HGDH: Difference between revisions

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{{Infobox_gene}}
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'''D-2-hydroxyglutarate dehydrogenase, mitochondrial''' is an [[enzyme]] that in humans is encoded by the ''D2HGDH'' [[gene]].<ref name="pmid15070399">{{cite journal | vauthors = Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E | title = Identification of a dehydrogenase acting on D-2-hydroxyglutarate | journal = Biochem J | volume = 381 | issue = Pt 1 | pages = 35–42 |date=Jun 2004 | pmid = 15070399 | pmc = 1133759 | doi = 10.1042/BJ20031933 }}</ref><ref name="pmid15609246">{{cite journal | vauthors = Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C | title = Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria | journal = Am J Hum Genet | volume = 76 | issue = 2 | pages = 358–60 |date=Jan 2005 | pmid = 15609246 | pmc = 1196381 | doi = 10.1086/427890 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=728294| accessdate = }}</ref>
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{{GNF_Protein_box
| image =
| image_source = 
| PDB =
| Name = D-2-hydroxyglutarate dehydrogenase
| HGNCid = 28358
| Symbol = D2HGDH
| AltSymbols =; D2HGD; FLJ42195; MGC25181
| OMIM = 609186
| ECnumber =
| Homologene = 89182
| MGIid =
| Function = {{GNF_GO|id=GO:0004623 |text = phospholipase A2 activity}} {{GNF_GO|id=GO:0016491 |text = oxidoreductase activity}} {{GNF_GO|id=GO:0051990 |text = (R)-2-hydroxyglutarate dehydrogenase activity}}
| Component = {{GNF_GO|id=GO:0005739 |text = mitochondrion}}
| Process = {{GNF_GO|id=GO:0006118 |text = electron transport}} {{GNF_GO|id=GO:0006644 |text = phospholipid metabolic process}} {{GNF_GO|id=GO:0010042 |text = response to manganese ion}} {{GNF_GO|id=GO:0010043 |text = response to zinc ion}} {{GNF_GO|id=GO:0016042 |text = lipid catabolic process}} {{GNF_GO|id=GO:0032025 |text = response to cobalt ion}} {{GNF_GO|id=GO:0032026 |text = response to magnesium ion}} {{GNF_GO|id=GO:0044267 |text = cellular protein metabolic process}} {{GNF_GO|id=GO:0051592 |text = response to calcium ion}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 728294
    | Hs_Ensembl = ENSG00000180902
    | Hs_RefseqProtein = XP_001130341
    | Hs_RefseqmRNA = XM_001130341
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 2
    | Hs_GenLoc_start = 242322718
    | Hs_GenLoc_end = 242356897
    | Hs_Uniprot = Q8N465
    | Mm_EntrezGene =
    | Mm_Ensembl =
    | Mm_RefseqmRNA = 
    | Mm_RefseqProtein = 
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 
    | Mm_GenLoc_start = 
    | Mm_GenLoc_end = 
    | Mm_Uniprot = 
  }}
}}
'''D-2-hydroxyglutarate dehydrogenase''', also known as '''D2HGDH''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=728294| accessdate = }}</ref>


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{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.<ref name="entrez">{{cite web | title = Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=728294| accessdate = }}</ref>
| summary_text = This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts [[Alpha-Hydroxyglutaric acid|D-2-hydroxyglutarate]] to [[alpha-ketoglutaric acid|2-ketoglutarate]]. Mutations in this gene are present in [[2-Hydroxyglutaric aciduria|D-2-hydroxyglutaric aciduria]], a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.<ref name="entrez" />
}}
}}
==See also==
* [[L2HGDH]]
* [[2-hydroxyglutarate synthase]]
* [[2-hydroxyglutarate dehydrogenase]]
* [[Hydroxyacid-oxoacid transhydrogenase]]


==References==
==References==
{{reflist|2}}
{{reflist}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Gibson KM, Craigen W, Herman GE, Jakobs C |title=D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? |journal=J. Inherit. Metab. Dis. |volume=16 |issue= 3 |pages= 497-500 |year= 1995 |pmid= 7609436 |doi=  }}
*{{cite journal  | vauthors=Gibson KM, Craigen W, Herman GE, Jakobs C |title=D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder? |journal=J. Inherit. Metab. Dis. |volume=16 |issue= 3 |pages= 497–500 |year= 1995 |pmid= 7609436 |doi=10.1007/BF00711664 }}
*{{cite journal  | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791-806 |year= 1997 |pmid= 8889548 |doi=  }}
*{{cite journal  | vauthors=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=10.1101/gr.6.9.791 }}
*{{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=Strausberg RL, Feingold EA, Grouse LH |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 |display-authors=etal}}
*{{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  | vauthors=Ota T, Suzuki Y, Nishikawa T |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 |display-authors=etal}}
*{{cite journal  | author=Achouri Y, Noël G, Vertommen D, ''et al.'' |title=Identification of a dehydrogenase acting on D-2-hydroxyglutarate. |journal=Biochem. J. |volume=381 |issue= Pt 1 |pages= 35-42 |year= 2004 |pmid= 15070399 |doi= 10.1042/BJ20031933 }}
*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 |display-authors=etal}}
*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121-7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
*{{cite journal  | vauthors=Hillier LW, Graves TA, Fulton RS |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724–31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 |display-authors=etal}}
*{{cite journal | author=Struys EA, Salomons GS, Achouri Y, ''et al.'' |title=Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria. |journal=Am. J. Hum. Genet. |volume=76 |issue= 2 |pages= 358-60 |year= 2005 |pmid= 15609246 |doi= 10.1086/427890 }}
*{{cite journal  | vauthors=Struys EA, Korman SH, Salomons GS |title=Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. |journal=Ann. Neurol. |volume=58 |issue= 4 |pages= 626–30 |year= 2005 |pmid= 16037974 |doi= 10.1002/ana.20559 |display-authors=etal}}
*{{cite journal  | author=Hillier LW, Graves TA, Fulton RS, ''et al.'' |title=Generation and annotation of the DNA sequences of human chromosomes 2 and 4. |journal=Nature |volume=434 |issue= 7034 |pages= 724-31 |year= 2005 |pmid= 15815621 |doi= 10.1038/nature03466 }}
*{{cite journal  | vauthors=Misra VK, Struys EA, O'brien W |title=Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. |journal=Mol. Genet. Metab. |volume=86 |issue= 1-2 |pages= 200–5 |year= 2006 |pmid= 16081310 |doi= 10.1016/j.ymgme.2005.06.005 |display-authors=etal}}
*{{cite journal  | author=Struys EA, Korman SH, Salomons GS, ''et al.'' |title=Mutations in phenotypically mild D-2-hydroxyglutaric aciduria. |journal=Ann. Neurol. |volume=58 |issue= 4 |pages= 626-30 |year= 2005 |pmid= 16037974 |doi= 10.1002/ana.20559 }}
*{{cite journal  | vauthors=Kimura K, Wakamatsu A, Suzuki Y |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55–65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 | pmc=1356129 |display-authors=etal}}
*{{cite journal  | author=Misra VK, Struys EA, O'brien W, ''et al.'' |title=Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins. |journal=Mol. Genet. Metab. |volume=86 |issue= 1-2 |pages= 200-5 |year= 2006 |pmid= 16081310 |doi= 10.1016/j.ymgme.2005.06.005 }}
*{{cite journal  | vauthors=Struys EA, Verhoeven NM, Salomons GS |title=D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? |journal=Mol. Genet. Metab. |volume=88 |issue= 1 |pages= 53–7 |year= 2006 |pmid= 16442322 |doi= 10.1016/j.ymgme.2005.12.002 |display-authors=etal}}
*{{cite journal  | author=Kimura K, Wakamatsu A, Suzuki Y, ''et al.'' |title=Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. |journal=Genome Res. |volume=16 |issue= 1 |pages= 55-65 |year= 2006 |pmid= 16344560 |doi= 10.1101/gr.4039406 }}
*{{cite journal  | vauthors=Ewing RM, Chu P, Elisma F |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  1|pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 | pmc=1847948 |display-authors=etal}}
*{{cite journal  | author=Struys EA, Verhoeven NM, Salomons GS, ''et al.'' |title=D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon? |journal=Mol. Genet. Metab. |volume=88 |issue= 1 |pages= 53-7 |year= 2006 |pmid= 16442322 |doi= 10.1016/j.ymgme.2005.12.002 }}
*{{cite journal  | author=Ewing RM, Chu P, Elisma F, ''et al.'' |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue=  |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134 }}
}}
}}
{{refend}}
{{refend}}


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Latest revision as of 18:13, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.[1][2][3]

This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.[3]

See also

References

  1. ↑ Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E (Jun 2004). "Identification of a dehydrogenase acting on D-2-hydroxyglutarate". Biochem J. 381 (Pt 1): 35–42. doi:10.1042/BJ20031933. PMC 1133759. PMID 15070399.
  2. ↑ Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C (Jan 2005). "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria". Am J Hum Genet. 76 (2): 358–60. doi:10.1086/427890. PMC 1196381. PMID 15609246.
  3. ↑ 3.0 3.1 "Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase".

Further reading



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