Primary Identifier | MGI:102706 | Organism | mouse, laboratory |
Chromosome | 14 | NCBI Gene Number | 14137 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable squalene synthase [NAD(P)H] activity. Predicted to be involved in cholesterol biosynthetic process and farnesyl diphosphate metabolic process. Predicted to be located in endoplasmic reticulum. Predicted to be active in endoplasmic reticulum membrane. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Orthologous to human FDFT1 (farnesyl-diphosphate farnesyltransferase 1). PHENOTYPE: Mice homozygous for a null mutation die around E9.5-10.5. Conditional homozygous null in which the gene is deleted specifically in oligodendrocyte and Schwann cell display dysmyelination of spinal cord and brain white matter, and showed ataxia and tremor. [provided by MGI curators] |