ABCA4 Chromosome 1
ATP binding cassette subfamily A member 4
Upload your DNA to see your personal genotypes for variants in ABCA4.
What This Gene Does
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]
Gene Info
Gene Group
"ATP binding cassette subfamily A|ATPase phospholipid transporting"
Locus Type
gene with protein product
Location
1p22.1
Ensembl
ENSG00000198691
Associated Conditions (55)
Stargardt disease
Retinal dystrophy
Severe early-childhood-onset retinal dystrophy
Retinitis pigmentosa 19
ABCA4-related disorder
Cone-rod dystrophy 3
Retinitis pigmentosa
Cone dystrophy
Optic atrophy
ABCA4-related retinopathy
maculopathy
Age related macular degeneration 2
Cone-rod dystrophy
Inborn genetic diseases
Thymoma
Isolated macular dystrophy
Retinal disorder
MACULAR DEGENERATION
AGE-RELATED
2
+35 more conditions
Key Variants
RS1012017728
Conflicting classifications of pathogenicity
Stargardt disease, Retinal dystrophy, Stargardt disease
Health Risk
RS1034969302
Conflicting classifications of pathogenicity
Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19, ABCA4-related disorder
Health Risk
RS1057520211
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1057520212
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS1057520668
Conflicting classifications of pathogenicity
Health Risk
RS1064793009
Conflicting classifications of pathogenicity
Health Risk
RS1064793011
Conflicting classifications of pathogenicity
Retinal dystrophy, ABCA4-related disorder, Retinal dystrophy
Health Risk
RS1064793013
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS1064797091
Conflicting classifications of pathogenicity
Health Risk
RS1064797113
Conflicting classifications of pathogenicity
Retinitis pigmentosa, ABCA4-related disorder, Retinitis pigmentosa
Health Risk
RS112300381
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS113106943
Conflicting classifications of pathogenicity
Severe early-childhood-onset retinal dystrophy, Cone dystrophy, Retinal dystrophy
Health Risk
All Variants (1388)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2101013876 | Health Risk | Likely pathogenic | — |
| RS2101020915 | Health Risk | Likely pathogenic | — |
| RS2101023087 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2101027768 | Health Risk | Likely pathogenic | — |
| RS2101033441 | Health Risk | Likely pathogenic | — |
| RS2101034926 | Health Risk | Likely pathogenic | — |
| RS2101047075 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101048742 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101051595 | Health Risk | Likely pathogenic | — |
| RS2101051637 | Health Risk | Likely pathogenic | — |
| RS2101057095 | Health Risk | Likely pathogenic | — |
| RS2101057505 | Health Risk | Likely pathogenic | — |
| RS2101059901 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Retinitis pigmentosa 19 |
| RS2101067779 | Health Risk | Likely pathogenic | — |
| RS2101075259 | Health Risk | Likely pathogenic | — |
| RS2101077991 | Health Risk | Likely pathogenic | — |
| RS2101078317 | Health Risk | Likely pathogenic | Abnormality of the eye, Abnormality of the eye |
| RS2101078458 | Health Risk | Likely pathogenic | — |
| RS2101079462 | Health Risk | Likely pathogenic | Stargardt disease, Stargardt disease |
| RS2101107143 | Health Risk | Likely pathogenic | — |
| RS2101135424 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2101156046 | Health Risk | Likely pathogenic | — |
| RS2101162564 | Health Risk | Likely pathogenic | — |
| RS2523623980 | Health Risk | Likely pathogenic | — |
| RS2523624191 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2523624439 | Health Risk | Likely pathogenic | Retinitis pigmentosa 19, Retinitis pigmentosa 19 |
| RS2523624821 | Health Risk | Likely pathogenic | Retinal disorder, Retinal disorder |
| RS2523628002 | Health Risk | Likely pathogenic | — |
| RS2523628298 | Health Risk | Likely pathogenic | — |
| RS2523628325 | Health Risk | Likely pathogenic | — |
| RS2523638497 | Health Risk | Likely pathogenic | — |
| RS2523657424 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2523657774 | Health Risk | Likely pathogenic | — |
| RS2523668584 | Health Risk | Likely pathogenic | — |
| RS2523668682 | Health Risk | Likely pathogenic | — |
| RS2523668750 | Health Risk | Likely pathogenic | — |
| RS2523668761 | Health Risk | Likely pathogenic | — |
| RS2523668882 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2523686625 | Health Risk | Likely pathogenic | — |
| RS2523693451 | Health Risk | Likely pathogenic | — |
| RS2523694854 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2523707250 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2523715237 | Health Risk | Likely pathogenic | — |
| RS2523727054 | Health Risk | Likely pathogenic | — |
| RS2523729105 | Health Risk | Likely pathogenic | — |
| RS2523729282 | Health Risk | Likely pathogenic | Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy |
| RS2523732620 | Health Risk | Likely pathogenic | — |
| RS2523732681 | Health Risk | Likely pathogenic | — |
| RS2523765294 | Health Risk | Likely pathogenic | — |
| RS2523771792 | Health Risk | Likely pathogenic | — |