D2HGDH Knowpia

D2HGDH
Identifiers
Aliases	D2HGDH, D2HGD, D-2-hydroxyglutarate dehydrogenase
External IDs	OMIM: 609186 MGI: 2138209 HomoloGene: 5534 GeneCards: D2HGDH
Gene location (Human)
Chr.	Chromosome 2 (human)
End	241,768,816 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	93,780,070 bp
RNA expression pattern
	Top expressed in
	right uterine tube; ; pancreatic ductal cell; ; left lobe of thyroid gland; ; right lobe of thyroid gland; ; anterior pituitary; ; skin of abdomen; ; right lobe of liver; ; transverse colon; ; canal of the cervix; ; minor salivary glands;
	Top expressed in
	left lobe of liver; ; otolith organ; ; utricle; ; interventricular septum; ; ascending aorta; ; hand; ; semi-lunar valve; ; Paneth cell; ; ciliary body; ; aortic valve;
	More reference expression data
	n/a
Gene ontology
Molecular function	oxidoreductase activity; catalytic activity; flavin adenine dinucleotide binding; oxidoreductase activity, acting on CH-OH group of donors; D-lactate dehydrogenase (cytochrome) activity; (R)-2-hydroxyglutarate dehydrogenase activity; FAD binding;
Cellular component	mitochondrial matrix; mitochondrion; extrinsic component of cytoplasmic side of plasma membrane;
Biological process	response to calcium ion; response to zinc ion; response to magnesium ion; response to cobalt ion; response to manganese ion; 2-oxoglutarate metabolic process; lactate oxidation; respiratory electron transport chain;
	Sources:Amigo / QuickGO
Orthologs
	728294
	98314
	ENSG00000180902
	ENSMUSG00000073609
	Q8N465
	Q8CIM3
	NM_001287249; NM_152783; NM_001352824
	NM_178882; NM_001310767
	NP_001274178; NP_689996; NP_001339753
	NP_001297696; NP_849213
	Wikidata
View/Edit Human	View/Edit Mouse

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.^[5]^[6]^[7]

This gene encodes D-2hydroxyglutarate dehydrogenase is 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.^[7]

References edit

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000180902 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000073609 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ 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.
^ ^a ^b "Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase".

Further reading edit

Gibson KM, Craigen W, Herman GE, Jakobs C (1995). "D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?". J. Inherit. Metab. Dis. 16 (3): 497–500. doi:10.1007/BF00711664. PMID 7609436. S2CID 31099476.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
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. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
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.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
Struys EA, Korman SH, Salomons GS, et al. (2005). "Mutations in phenotypically mild D-2-hydroxyglutaric aciduria". Ann. Neurol. 58 (4): 626–30. doi:10.1002/ana.20559. PMID 16037974. S2CID 45926378.
Misra VK, Struys EA, O'brien W, et al. (2006). "Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins". Mol. Genet. Metab. 86 (1–2): 200–5. doi:10.1016/j.ymgme.2005.06.005. PMID 16081310.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
Struys EA, Verhoeven NM, Salomons GS, et al. (2006). "D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?". Mol. Genet. Metab. 88 (1): 53–7. doi:10.1016/j.ymgme.2005.12.002. PMID 16442322.
Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000180902 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000073609 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid15070399-5] 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.

[pmid15609246-6] 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.

[entrez-7] "Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase".

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[7]

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Summary

See also edit

References edit

Further reading edit