ABCA4

GENE INFORMATION

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Gene name

ABCA4 (HGNC Symbol)

Synonyms

ABCA4, ABCR , ARMD2, CORD3, FFM, RP19, STGD, STGD1

Description

ATP-binding cassette, sub-family A (ABC1), member 4 (HGNC Symbol)

Entrez gene summary

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, indicating the gene product mediates transport of an essental molecule 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, Jul 2008]

Chromosome

1 (Chromosome progress)

Cytoband

p22.1

Chromosome location (bp)

94458393 - 94586688

Ensembl

ENSG00000198691 (version 73.37)

Entrez gene

24

UniProt

P78363 (UniProt - Evidence at protein level)

neXtProt

NX_P78363

Antibodypedia

ABCA4 antibodies
 

PROTEIN VIEW

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ABCA4-001
 
ABCA4-201
 
ABCA4-202
 
ABCA4-203
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCA4-001 ENSP00000359245
ENST00000370225
P78363
Show all »
Show » Show » 2273 255.9 No >9
ABCA4-201 ENSP00000437682
ENST00000535735
F5H6E5
Show all »
Show » 979 112.3 No 4
ABCA4-202 ENSP00000443203
ENST00000535881
F5H5R2
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Show » Show » 392 43.4 No 0
ABCA4-203 ENSP00000439707
ENST00000536513
B4DWY6
Show all »
Show » Show » 543 60.2 No 5