| Primary Identifier | MGI:1349216 | Organism | mouse, laboratory |
| Chromosome | 3 | NCBI Gene Number | 19299 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including ATP binding activity; ATP hydrolysis activity; and protein homodimerization activity. Involved in bile acid and bile salt transport; bile acid biosynthetic process; and phytanic acid metabolic process. Located in peroxisomal membrane. Is expressed in several structures, including alimentary system; brain; cardiovascular system; genitourinary system; and sensory organ. Used to study congenital bile acid synthesis defect 5. Human ortholog(s) of this gene implicated in Zellweger syndrome and congenital bile acid synthesis defect 5. Orthologous to human ABCD3 (ATP binding cassette subfamily D member 3). PHENOTYPE: Mice homozygous for a null mutation show enlarged livers, abnormal bile composition and peroxisome abnormalities. [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
