Hydroxyacid oxidase (glycolate oxidase) 1

From Wikipedia, the free encyclopedia
HAO1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHAO1, GOX, GOX1, HAOX1, Hydroxyacid oxidase (glycolate oxidase) 1, hydroxyacid oxidase 1, GO
External IDsOMIM: 605023 MGI: 96011 HomoloGene: 6578 GeneCards: HAO1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_017545

NM_010403

RefSeq (protein)

NP_060015

NP_034533

Location (UCSC)Chr 20: 7.88 – 7.94 MbChr 2: 134.34 – 134.4 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Hydroxyacid oxidase (glycolate oxidase) 1 is a protein that in humans is encoded by the HAO1 gene.[5]

Function[edit]

This gene is one of three related genes that have 2-hydroxyacid oxidase activity yet differ in encoded protein amino acid sequence, tissue expression and substrate preference. Subcellular location of the encoded protein is the peroxisome. Specifically, this gene is expressed primarily in liver and pancreas and the encoded protein is most active on glycolate, a two-carbon substrate. Glycolate oxidase oxidizes glycolic acid to glyoxylate, and can also oxidize glyoxylate into oxalate. These reactions are central to the toxicity of ethylene glycol poisoning.[6]

The protein is also active on 2-hydroxy fatty acids. The transcript detected at high levels in pancreas may represent an alternatively spliced form or the use of a multiple near-consensus upstream polyadenylation site.[5]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000101323 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027261 - 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.
  5. ^ a b "Entrez Gene: Hydroxyacid oxidase (glycolate oxidase) 1".
  6. ^ Woolf, Alan D.; Wynshaw-Boris, Anthony; Rinaldo, Piero; Levy, Harvey L. (March 1992). "Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder". The Journal of Pediatrics. 120 (3): 421–424. doi:10.1016/s0022-3476(05)80910-2. ISSN 0022-3476. PMID 1538289.

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.