ABCA4 ATP binding cassette subfamily A member 4
Gene ID: 24, updated on 16-Apr-2024Gene type: protein coding
Also known as: FFM; RMP; ABCR; RP19; STGD; ABC10; ARMD2; CORD3; STGD1
- See all available tests in GTR for this gene
- Go to complete Gene record for ABCA4
- Go to Variation Viewer for ABCA4 variants
Summary
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is a retina-specific ABC transporter with N-retinylidene-PE as a substrate. It is expressed exclusively in retina photoreceptor cells, and the gene product mediates transport of an essental molecule, all-trans-retinal aldehyde (atRAL), across the photoreceptor cell membrane. Mutations in this gene are found in patients diagnosed with Stargardt disease, a form of juvenile-onset macular degeneration. Mutations in this gene are also associated with retinitis pigmentosa-19, cone-rod dystrophy type 3, early-onset severe retinal dystrophy, fundus flavimaculatus, and macular degeneration age-related 2. [provided by RefSeq, Sep 2019]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Age related macular degeneration 2 | See labs |
| Cone-rod dystrophy 3 | See labs |
| Genetic predictors of fibrin D-dimer levels in healthy adults. GeneReviews: Not available | |
| Genome-wide association scan for survival on dialysis in African-Americans with type 2 diabetes. GeneReviews: Not available | |
| Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortiu GeneReviews: Not available | |
| Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci. GeneReviews: Not available | |
| Retinitis pigmentosa 19 | See labs |
| Severe early-childhood-onset retinal dystrophy | See labs |
Genomic context
- Location:
- 1p22.1
- Sequence:
- Chromosome: 1; NC_000001.11 (93992834..94121148, complement)
- Total number of exons:
- 50
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABCA4 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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