| Primary Identifier | MGI:2384795 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 209027 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable identical protein binding activity and pyrroline-5-carboxylate reductase activity. Predicted to be involved in several processes, including L-proline biosynthetic process; negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway; and regulation of mitochondrial membrane potential. Predicted to act upstream of or within amino acid biosynthetic process. Located in mitochondrion. Is expressed in several structures, including alimentary system; brain; ear; genitourinary system; and skeleton. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IIB and autosomal recessive cutis laxa type IIIB. Orthologous to human PYCR1 (pyrroline-5-carboxylate reductase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit male-specific impaired glucose tolerance and decreased circulating triglyceride levels. Mice homozygous for a second null allele display decreased susceptibility to myocardial ischemic injury. [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
