Primary Identifier | MGI:98735 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 21823 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable several functions, including cation binding activity; oxygen binding activity; and tyrosine 3-monooxygenase activity. Involved in eye development and visual perception. Acts upstream of or within several processes, including dopamine biosynthetic process from tyrosine; dopaminergic synaptic transmission; and learning or memory. Located in several cellular components, including axon; perikaryon; and perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; cardiovascular system; eye; genitourinary system; and nervous system. Human ortholog(s) of this gene implicated in Parkinson's disease; Parkinsonism; heroin dependence; hypertension; and obesity. Orthologous to human TH (tyrosine hydroxylase). PHENOTYPE: Homozygotes for targeted null mutations are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure. Treatment of the pregnant female with dihydroxyphenylalanine prevents prenatal mortality. Mice homozygous for hypomorphic targeted alleles are hypokinetic. [provided by MGI curators] |