Primary Identifier | MGI:2443065 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 228061 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable FAD binding activity and alkylglycerone-phosphate synthase activity. Predicted to be involved in ether lipid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; central nervous system; respiratory system; sensory organ; and urinary system. Used to study rhizomelic chondrodysplasia punctata type 3. Human ortholog(s) of this gene implicated in rhizomelic chondrodysplasia punctata and rhizomelic chondrodysplasia punctata type 3. Orthologous to human AGPS (alkylglycerone phosphate synthase). PHENOTYPE: Mice homozygous for a spontaneous allele exhibit male infertility, azoospermia, microphthalmia, and cataracts. [provided by MGI curators] |