| Primary Identifier | MGI:103078 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 20751 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein homodimerization activity. Acts upstream of or within several processes, including L-phenylalanine metabolic process; catecholamine metabolic process; and voluntary musculoskeletal movement. Located in mitochondrion. Is expressed in several structures, including alimentary system; heart; nervous system; sensory organ; and skeleton. Used to study Parkinson's disease. Human ortholog(s) of this gene implicated in dystonia and sepiapterin reductase deficiency. Orthologous to human SPR (sepiapterin reductase). PHENOTYPE: Mice homozygous for a null allele exhibit premature death, severe growth retardation, dwarfism, decreased levels of insulin-like growth factor 1, dopamine, serotonine, noradrenaline, biopterin, and neopterin, abnormal voluntary movement, and elevated phenylalanine levels. [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
