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 drugEvidenceGrade / statusContextSource
ABCA4-related retinopathyClinGen gene-disease validityDefinitiveAutosomal recessiveView source
2022-10-06
age related macular degeneration 2ClinGen gene-disease validityDisputedAutosomal dominantView source
2025-03-06
Retinitis pigmentosaMedlinePlus related conditionAssociation type varies; no grade assigned hereView source
2023-10
Stargardt macular degenerationMedlinePlus related conditionAssociation type varies; no grade assigned hereView source
2023-10
Age-related macular degenerationMedlinePlus related conditionAssociation type varies; no grade assigned hereView source
2023-10
Cone-rod dystrophyMedlinePlus related conditionAssociation type varies; no grade assigned hereView 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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