ALDH1A3 aldehyde dehydrogenase 1 family member A3
Gene ID: 220, updated on 7-Apr-2024Gene type: protein coding
Also known as: ALDH6; MCOP8; RALDH3; ALDH1A6
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- Go to complete Gene record for ALDH1A3
- Go to Variation Viewer for ALDH1A3 variants
Summary
This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Isolated microphthalmia 8 | See labs |
Genomic context
- Location:
- 15q26.3
- Sequence:
- Chromosome: 15; NC_000015.10 (100879831..100916626)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALDH1A3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- Aldehyde Dehydrogenase Gene Superfamily Resource
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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