GTR Home > Genes

ALDH3A2 aldehyde dehydrogenase 3 family member A2

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

DescriptionTests
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:
13

Links

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.