Primary Identifier | MGI:1098273 | Organism | mouse, laboratory |
Chromosome | 15 | NCBI Gene Number | 17117 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable alpha-methylacyl-CoA racemase activity and signaling receptor binding activity. Predicted to be involved in bile acid biosynthetic process. Predicted to act upstream of or within isoprenoid catabolic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; cranium; genitourinary system; liver; and respiratory system. Used to study alpha-methylacyl-CoA racemase deficiency. Human ortholog(s) of this gene implicated in alpha-methylacyl-CoA racemase deficiency; congenital bile acid synthesis defect 4; and urinary bladder cancer. Orthologous to human AMACR (alpha-methylacyl-CoA racemase). PHENOTYPE: Homozygous null mice display impaired bile acid synthesis and with dietary phytol supplementation develop liver degeneration and induced mortality. [provided by MGI curators] |