| 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 7.0.0) 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 act upstream of or within amino acid biosynthetic process. 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] |
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
