Primary Identifier | MGI:1277956 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 69051 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable pyrroline-5-carboxylate reductase activity. Predicted to be involved in L-proline biosynthetic process and cellular response to oxidative stress. Predicted to be located in mitochondrion. Is expressed in several structures, including alimentary system; brain; respiratory system; sensory organ; and skeleton. Human ortholog(s) of this gene implicated in hypomyelinating leukodystrophy 10. Orthologous to human PYCR2 (pyrroline-5-carboxylate reductase 2). PHENOTYPE: Homozygous inactivation of this gene leads to limb clasping, decreased body weight, kyphosis, and reduced subdermal fat. [provided by MGI curators] |