ABCA4

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]

Description

ATP binding cassette subfamily A member 4

Tissue specificity

Group enriched (choroid plexus, retina)

Subcell location

Cytosol

Predicted location

Membrane

Protein family

Disease related genes
Enzymes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Plasma proteins
Potential drug targets
Predicted membrane proteins
Protein evidence (Kim et al 2014)
Transporters

Chromosome

1 (93992834 - 94121148)

Ensembl ID

ENSG00000198691  (ver. 103.38)

Orthologs

Mouse Abca4: ENSMUSG00000028125

UniProt

P78363

neXtProt

NX_P78363

Human splice variants
Mouse splice variants

Protein structure