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
Comparative Information
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
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations