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HOGA1

From Wikipedia, the free encyclopedia
HOGA1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHOGA1, C10orf65, DHDPS2, DHDPSL, HP3, NPL2, 4-hydroxy-2-oxoglutarate aldolase 1
External IDsOMIM: 613597; MGI: 1914682; HomoloGene: 12130; GeneCards: HOGA1; OMA:HOGA1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_138413
NM_001134670

NM_026152

RefSeq (protein)

NP_001128142
NP_612422

NP_080428

Location (UCSC)Chr 10: 97.58 – 97.61 MbChr 19: 42.03 – 42.06 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

4-Hydroxy-2-oxoglutarate aldolase, mitochondrial (HOGA1) also known as dihydrodipicolinate synthase-like (DHDPSL) is an enzyme that in humans is encoded by the HOGA1 gene. The protein is one of the enzymes (4-hydroxy-2-oxoglutarate aldolase) involved in metabolism of hydroxyproline to glyoxylate. The enzyme overactivity can form excessive glyoxylate from hydroxyproline. Glyoxylate is catabolised to oxalate, resulting in excess excretion of oxalate in urine, predisposing to oxalate stone; a condition known as primary hyperoxaluria type III.[5]

References

[edit]
  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000241935Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025176Ensembl, 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.
  5. ^ Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y (September 2010). "Mutations in DHDPSL are responsible for primary hyperoxaluria type III". American Journal of Human Genetics. 87 (3): 392–9. doi:10.1016/j.ajhg.2010.07.023. PMC 2933339. PMID 20797690.