ALDH8A1 Gene Summary [Human]

This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018]

Details

Type
Protein Coding
Official Symbol
ALDH8A1
Official Name
aldehyde dehydrogenase 8 family member A1 [Source:HGNC Symbol;Acc:HGNC:15471]
Ensembl ID
ENSG00000118514
Bio databases IDs NCBI: 64577 Ensembl: ENSG00000118514
Aliases aldehyde dehydrogenase 8 family member A1
Synonyms aldehyde dehydrogenase 8 family member A1, aldehyde dehydrogenase 8 family, member A1, ALDH12, DJ352A20.2, LOC683474, Raldh4
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ALDH8A1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Aldehyde dehydrogenase family
  • 5-carboxymethyl-2-hydroxymuconate semialdehyde dehydrogenase
  • betaine-aldehyde dehydrogenase
  • delta-1-pyrroline-5-carboxylate dehydrogenase, group 1
  • retinal dehydrogenase
  • enzyme
  • delta-1-pyrroline-5-carboxylate dehydrogenase, group 2, putative
  • 2-hydroxymuconic semialdehyde dehydrogenase
  • delta-1-pyrroline-5-carboxylate dehydrogenase (PutA C-terminal domain)
  • NAD(P)+-dependent aldehyde dehydrogenase superfamily

Pathways

Biological processes and signaling networks where the ALDH8A1 gene in human plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • epithelial cancer
  • hepatocellular carcinoma
  • liver cancer
  • preeclampsia
  • hepatitis B virus-related hepatocellular carcinoma
regulated by
regulates
  • alitretinoin
  • tretinoin

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • cytosol

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human ALDH8A1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • 9-cis-retinoic acid biosynthetic process
  • retinoic acid metabolic process
  • retinal metabolic process
  • L-kynurenine catabolic process

Cellular Component

Where in the cell the gene product is active
  • extracellular vesicular exosome
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • aminomuconate-semialdehyde dehydrogenase activity
  • retinal dehydrogenase activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.