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Protein Coding Gene : Abca4 ATP-binding cassette, sub-family A member 4
Primary Identifier  MGI:109424 Organism  mouse, laboratory
Chromosome  3 NCBI Gene Number  11304
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables N-retinylidene-phosphatidylethanolamine flippase activity. Acts upstream of or within phospholipid transfer to membrane; photoreceptor cell maintenance; and visual perception. Located in photoreceptor outer segment. Is expressed in nervous system and retina. Used to study Stargardt disease; age related macular degeneration 2; cone-rod dystrophy 3; and retinitis pigmentosa 19. Human ortholog(s) of this gene implicated in fundus dystrophy and retinal degeneration (multiple). Orthologous to human ABCA4 (ATP binding cassette subfamily A member 4).
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene display delayed rod dark adaptation and are a model for juvenile macular degeneration. [provided by MGI curators]
  • synonyms:
  • RIKEN cDNA D430003I15 gene,
  • expressed sequence AW050280,
  • D430003I15Rik,
  • AW050280,
  • MGI:2139961,
  • Abca4,
  • MGI:2444181,
  • ATP-binding cassette, sub-family A member 4,
  • Rim protein,
  • ATP-binding cassette 10,
  • Abc10,
  • RmP,
  • MGD-MRK-38469
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Features --> Cross References

Genome

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

2 Involved In Mutations

Trail: ProteinCodingGene

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0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

5 Pathways

Trail: ProteinCodingGene

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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