ALDH3A2 aldehyde dehydrogenase 3 family member A2

Gene ID: 224, updated on 18-Sep-2024
Gene type: protein coding
Also known as: SLS; FALDH; ALDH10

Summary

Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Sjogren-Larsson syndrome MedGen: C0037231OMIM: 270200GeneReviews: Not available	See labs

Genomic context

Location:: 17p11.2

Sequence:: Chromosome: 17; NC_000017.11 (19648136..19677596)

Total number of exons:: 14

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for ALDH3A2 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

Aldehyde Dehydrogenase Gene Superfamily Resource
ALDH3A2 database
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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