L2HGDH
| L2HGDH | |||
|---|---|---|---|
| Identifiers | |||
Gene ontology | |||
| Molecular function | |||
| Cellular component | |||
| Biological process | |||
| Sources:Amigo / QuickGO | |||
Ensembl | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| UniProt | |||||||||
| RefSeq (mRNA) | |||||||||
| RefSeq (protein) | |||||||||
| Location (UCSC) | Chr 14: 50.24 – 50.31 Mb | Chr 12: 69.74 – 69.77 Mb | |||||||
| PubMed search | [3] | [4] | |||||||
| View/Edit Human | View/Edit Mouse |
L-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the L2HGDH gene, also known as C14orf160, on chromosome 14.[5][6]
Function
This gene encodes L-2-hydroxyglutarate dehydrogenase, a
L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.[6]
L2HGDH codes for a protein that is 50 kDa in size. The L2HGDH protein contains a mitochondrial-targeting
mitochondria inside the cell. The L2HGDH protein catalyzes the following reaction, and requires flavin adenine dinucleotide (FAD) as a co-factor
:
(S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor.[5]
L-2-hydroxyglutarate is produced by
metabolite repair
enzyme because it reconverts the useless damage product L-2-hydroxyglutarate back to 2-oxoglutarate.
Clinical significance
Mutations in the L2HGDH gene cause
L2HGDH has a role in mediating differentiation in T-cells via its activity on S-2HG [10]
Molecular interactions
See also
- D2HGDH
- 2-hydroxyglutarate synthase
- 2-hydroxyglutarate dehydrogenase
- Hydroxyacid-oxoacid transhydrogenase
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000087299 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020988 – 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.
- ^ PMID 16005139.
- ^ a b "Entrez Gene: L2HGDH L-2-hydroxyglutarate dehydrogenase".
- ^ "L2HGDH - L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor - Homo sapiens (Human) - L2HGDH gene & protein". www.uniprot.org.
- PMID 19911013.
- ^ PMID 20052767.
- PMID 27798602.
- PMID 26186194.
Further reading
- Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK (1981). "L-2-Hydroxyglutaric aciduria: an inborn error of metabolism?". Journal of Inherited Metabolic Disease. 3 (4): 109–12. S2CID 22073735.
- Jansen GA, Wanders RJ (Nov 1993). "L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1225 (1): 53–6. PMID 8241290.
- Topçu M, Jobard F, Halliez S, Coskun T, Yalçinkayal C, Gerceker FO, Wanders RJ, Prud'homme JF, Lathrop M, Ozguc M, Fischer J (Nov 2004). "L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1". Human Molecular Genetics. 13 (22): 2803–11. PMID 15385440.
- Rzem R, Veiga-da-Cunha M, Noël G, Goffette S, Nassogne MC, Tabarki B, Schöller C, Marquardt T, Vikkula M, Van Schaftingen E (Nov 2004). "A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria". Proceedings of the National Academy of Sciences of the United States of America. 101 (48): 16849–54. PMID 15548604.
- Vilarinho L, Cardoso ML, Gaspar P, Barbot C, Azevedo L, Diogo L, Santos M, Carrilho I, Fineza I, Kok F, Chorão R, Alegria P, Martins E, Teixeira J, Cabral Fernandes H, Verhoeven NM, Salomons GS, Santorelli FM, Cabral P, Amorim A, Jakobs C (Oct 2005). "Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin". Human Mutation. 26 (4): 395–6. PMID 16134148.
- Struys EA, Gibson KM, Jakobs C (Oct 2007). "Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid". Journal of Inherited Metabolic Disease. 30 (5): 690–3. S2CID 10571813.
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