ALDH7A1

Aldehyde dehydrogenase 7 family, member A1, also known as ALDH7A1 or antiquitin, is an enzyme that in humans is encoded by the ALDH7A1 gene. The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified.

ALDH7A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesALDH7A1, ATQ1, EPD, PDE, aldehyde dehydrogenase 7 family member A1
External IDsOMIM: 107323 MGI: 108186 HomoloGene: 913 GeneCards: ALDH7A1
EC number1.2.1.3
Orthologs
SpeciesHumanMouse
Entrez

501

110695

Ensembl

ENSG00000164904

ENSMUSG00000053644

UniProt

P49419

Q9DBF1

RefSeq (mRNA)

NM_001182
NM_001201377
NM_001202404

NM_001127338
NM_138600

RefSeq (protein)

NP_001173
NP_001188306
NP_001189333

NP_001120810
NP_613066

Location (UCSC)Chr 5: 126.53 – 126.6 MbChr 18: 56.64 – 56.71 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.