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- Table of Contents
Facts about Retinal-specific phospholipid-transporting ATPase ABCA4.
May play a role in photoresponse, removing ATR/NR-PE in the extracellular photoreceptor surfaces during bleach recovery. .
Human | |
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Gene Name: | ABCA4 |
Uniprot: | P78363 |
Entrez: | 24 |
Belongs to: |
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ABC transporter superfamily |
ABC10; ABCRRMP; ARMD2DKFZp781N1972; ATP binding cassette transporter; ATP-binding cassette sub-family A member 4; ATP-binding cassette transporter, retinal-specific; ATP-binding cassette, sub-family A (ABC1), member 4; ATP-binding transporter, retina-specific; CORD3; EC 3.6.3; FFMFLJ17534; photoreceptor rim protein; retinal-specific ATP-binding cassette transporter; retina-specific ABC transporter; RIM ABC transporter; RIM protein; RmP; RP19; Stargardt disease protein; STGD; STGD1
Mass (kDA):
255.944 kDA
Human | |
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Location: | 1p22.1 |
Sequence: | 1; NC_000001.11 (93992834..94121148, complement) |
Retinal-specific. Seems to be exclusively found in the rims of rod photoreceptor cells.
Membrane; Multi-pass membrane protein. Endoplasmic reticulum. Localized to outer segment disk edges of rods and cones, with around one million copies/photoreceptor.
PMID: 9054934 by Allikmets R., et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
PMID: 9202155 by Azarian S.M., et al. The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR).