O35600.1
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UniProt Primary Accession #
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UniProt Related Accession #
Molecular Weight
260,209 Da
NCBI Official Full Name
Retinal-specific ATP-binding cassette transporter
NCBI Official Synonym Full Names
ATP-binding cassette, sub-family A (ABC1), member 4
NCBI Official Synonym Symbols
RmP; Abcr; Abc10; AW050280; D430003I15Rik [Similar Products]
NCBI Protein Information
retinal-specific ATP-binding cassette transporter; Rim protein; RIM ABC transporter; ATP-binding cassette 10; ATP-binding cassette sub-family A member 4
UniProt Protein Name
Retinal-specific ATP-binding cassette transporter
UniProt Synonym Protein Names
ATP-binding cassette sub-family A member 4; RIM ABC transporter; RIM protein; RmP
UniProt Synonym Gene Names
UniProt Entry Name
ABCA4_MOUSE
NCBI Summary for 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 was the first of the ABC transporters to be observed in photoreceptors and may play a role in the photoresponse. Mutations in the human gene are found in patients diagnosed with Stargardt disease and are associated with retinitis pigmentosa-19 and macular degeneration age-related 2. [provided by RefSeq, Jul 2008]
UniProt Comments for ABCA4
ABCA4: In the visual cycle, acts as an inward-directed retinoid flipase, retinoid substrates imported by ABCA4 from the extracellular or intradiscal (rod) membrane surfaces to the cytoplasmic membrane surface are all-trans-retinaldehyde (ATR) and N-retinyl-phosphatidyl-ethanolamine (NR-PE). Once transported to the cytoplasmic surface, ATR is reduced to vitamin A by trans- retinol dehydrogenase (tRDH) and then transferred to the retinal pigment epithelium (RPE) where it is converted to 11-cis-retinal. May play a role in photoresponse, removing ATR/NR-PE from the extracellular photoreceptor surfaces during bleach recovery. Defects in ABCA4 are the cause of Stargardt disease type 1 (STGD1). STGD is one of the most frequent causes of macular degeneration in childhood. It is characterized by macular dystrophy with juvenile-onset, rapidly progressive course, alterations of the peripheral retina, and subretinal deposition of lipofuscin-like material. STGD1 inheritance is autosomal recessive. Defects in ABCA4 are the cause of fundus flavimaculatus (FFM). FFM is an autosomal recessive retinal disorder very similar to Stargardt disease. In contrast to Stargardt disease, FFM is characterized by later onset and slowly progressive course. Defects in ABCA4 may be a cause of age-related macular degeneration type 2 (ARMD2). ARMD is a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid (known as drusen) that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Defects in ABCA4 are the cause of cone-rod dystrophy type 3 (CORD3). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. Defects in ABCA4 are the cause of retinitis pigmentosa type 19 (RP19). RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP19 is characterized by choroidal atrophy. Inheritance is autosomal recessive. Belongs to the ABC transporter superfamily. ABCA family.
Protein type: Membrane protein, multi-pass; Transporter, ABC family; Transporter; Membrane protein, integral
Cellular Component: photoreceptor outer segment; membrane; intracellular membrane-bound organelle; integral to plasma membrane; integral to membrane
Molecular Function: phospholipid-translocating ATPase activity; phospholipid transporter activity; transporter activity; ATPase activity, coupled to transmembrane movement of substances; cholesterol transporter activity; ATPase activity; nucleotide binding; ATP binding
Biological Process: phospholipid translocation; phospholipid transfer to membrane; visual perception; phospholipid efflux; transport; response to stimulus; photoreceptor cell maintenance; cholesterol efflux; transmembrane transport
Research Articles on ABCA4
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Pathways associated with anti-ABCA4 antibody
Diseases associated with anti-ABCA4 antibody
Organs/Tissues associated with anti-ABCA4 antibody
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