Gene

abca12

ID
ZDB-GENE-030131-9790
Name
ATP-binding cassette, sub-family A (ABC1), member 12
Symbol
abca12 Nomenclature History
Previous Names
  • cb352 (1)
  • sb:cb352
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to have ATPase-coupled transmembrane transporter activity; apolipoprotein A-I receptor binding activity; and lipid transporter activity. Involved in epidermis morphogenesis. Predicted to localize to intracellular membrane-bounded organelle. Is expressed in EVL; ectoderm; integument; peripheral olfactory organ; and pharynx. Human ortholog(s) of this gene implicated in autosomal recessive congenital ichthyosis 1; autosomal recessive congenital ichthyosis 4A; and autosomal recessive congenital ichthyosis 4B. Orthologous to human ABCA12 (ATP binding cassette subfamily A member 12).
Genome Resources
Note
None
Expression
All Expression Data
7 figures from 2 publications
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
2 figures from Li et al., 2011
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With abca12 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive congenital ichthyosis 4A Alliance Ichthyosis, congenital, autosomal recessive 4A 601277
autosomal recessive congenital ichthyosis 4B Alliance Ichthyosis, congenital, autosomal recessive 4B (harlequin) 242500
Associated With abca12 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
Family IPR030371 ATP-binding cassette subfamily A member 12
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 ATP-binding cassette subfamily A member 12 P-loop containing nucleoside triphosphate hydrolase
UniProtKB:F1QLU8 1809
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