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Gene : ABCA4 Homo sapiens

Name  ? ATP binding cassette subfamily A member 4 Cytological Location  1p22.1
Brief Description  ATP binding cassette subfamily A member 4
Description  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]
  • synonyms:
  • STGD,
  • ABC10,
  • STGD1,
  • CORD3,
  • STGD1,
  • ABCR,
  • uc001dqh.4,
  • RMP,
  • U88667,
  • ABCR,
  • RP19,
  • RP19,
  • STGD,
  • ARMD2,
  • NM_000350,
  • ATP-binding cassette transporter, retinal-specific,
  • ATP-binding cassette, sub-family A (ABC1), member 4,
  • CORD3,
  • Stargardt disease,
  • ARMD2,
  • FFM,
  • HGNC:34,
  • ABCA4,
  • OTTHUMG00000010622,
  • FFM
  • identifiers:
  • 24,
  • ENSG00000198691,
  • ABCA4

Genome feature

Region: gene ? Length: 128315  
Location: 1:93992834-94121148 reverse strand Cyto location: 1p22.1

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Report --> GWAS hit


4 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



89 SN Ps

5 Cross References

20 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results