ABCA4
Sensory System · Phototransduction & Retinal Processing
How do retinal cells clear byproducts created when I see light?
ABCA4 makes a transporter in photoreceptor cells that helps handle potentially damaging substances produced during vision. This cleanup supports the long-term function of the light-sensitive retina.
- Common Gene Name
- ATP binding cassette subfamily A member 4
- NCBI Gene ID
- 24
- Chromosome
- 1
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (6 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| ABCA4-related retinopathy | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2022-10-06 |
| age related macular degeneration 2 | ClinGen gene-disease validity | Disputed | Autosomal dominant | View source 2025-03-06 |
| Retinitis pigmentosa | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-10 | |
| Stargardt macular degeneration | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-10 | |
| Age-related macular degeneration | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-10 | |
| Cone-rod dystrophy | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2023-10 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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