Gene

abca4b

ID
ZDB-GENE-050517-4
Name
ATP-binding cassette, sub-family A (ABC1), member 4b
Symbol
abca4b Nomenclature History
Previous Names
  • si:ch211-195i6.4 (1)
Type
protein_coding_gene
Location
Chr: 2 Mapping Details/Browsers
Description
Predicted to have ATPase-coupled intramembrane lipid transporter activity; ATPase-coupled transmembrane transporter activity; and phospholipid transporter activity. Predicted to be involved in lipid transport. Predicted to localize to intracellular membrane-bounded organelle. 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).
Genome Resources
Note
None
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With abca4b Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
age related macular degeneration 2 Alliance {Macular degeneration, age-related, 2} 153800
cone-rod dystrophy 3 Alliance Cone-rod dystrophy 3 604116
retinitis pigmentosa 19 Alliance Retinitis pigmentosa 19 601718
Stargardt disease Alliance Fundus flavimaculatus 248200
Stargardt disease Alliance Retinal dystrophy, early-onset severe 248200
Stargardt disease Alliance Stargardt disease 1 248200
Associated With abca4b Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017871 ABC transporter, conserved site
Domain IPR003439 ABC transporter-like
Domain IPR003593 AAA+ ATPase domain
Family IPR026082 ABC transporter A
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Domain Details Per Protein
Protein Length AAA+ ATPase domain ABC transporter A ABC transporter, conserved site ABC transporter-like P-loop containing nucleoside triphosphate hydrolase
UniProtKB:F1R045 2327
UniProtKB:F1QVE1 2212
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations