| Primary Identifier | MGI:2676312 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 74591 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATPase-coupled transmembrane transporter activity; apolipoprotein A-I receptor binding activity; and lipid transporter activity. Involved in several processes, including corneocyte desquamation; establishment of skin barrier; and positive regulation of intracellular lipid transport. Acts upstream of or within several processes, including keratinization; positive regulation of cholesterol efflux; and positive regulation of protein localization to cell surface. Located in cytosol. Is expressed in several structures, including adrenal gland; gut; liver; lung; and skin. Used to study autosomal recessive congenital ichthyosis 4B. 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). PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality associated with defective skin development and abnormal lung morphology. [provided by MGI curators] |
Features --> Cross References
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
