Browse All / Genes / ABCA4

ABCA4

ATP binding cassette subfamily A member 4
3 disorders 2 untyped 1 disputed 1p22.1 gene with protein product
HGNC:34MonarchNCBI Gene 24ENSG00000198691UniProt P78363OMIM 601691

Previous symbols: STGD1, ABCR, RP19, STGD. Aliases: FFM, ARMD2, CORD3.

Normal function · from ai-gene-review (P78363, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status DRAFT; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Age-Related Macular Degeneration disputed germline
Inherited Retinal Dystrophy untyped
Causative
Stargardt Disease untyped
Causative
mechanism: ABCA4 transporter dysfunction
subtype: Stargardt disease 1 (STGD1)
treatment: Splice-modulating antisense oligonucleotide (investigational)
diagnosis: Molecular genetic testing for ABCA4-related disease
ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen diseaseMOIClassificationdismech entry
age related macular degeneration 2 MONDO:0007932 AD Disputed
2025-03-06
 no dismech entry
ABCA4-related retinopathy MONDO:0800406 AR Definitive
2022-10-06
 no dismech entry
Mechanism modules · computed from kb/

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.