Th Antibody (C-Term) Blocking Peptide

The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

TH: an enzyme involved in the conversion of phenylalanine to dopamine. As the rate-limiting enzyme in the synthesis of catecholamines, tyrosine hydroxylase has a key role in the physiology of adrenergic neurons. Four splice variant isoforms have been described.

Protein type: Amino Acid Metabolism - tyrosine; EC 1.14.16.2; Mitochondrial; Vesicle; Oxidoreductase; Endoplasmic reticulum

Chromosomal Location of Human Ortholog: 11p15.5

Cellular Component: cytoplasm; cytoplasmic vesicle; cytosol; internal side of plasma membrane; melanosome membrane; neuron projection; nucleus; perikaryon; smooth endoplasmic reticulum

Molecular Function: enzyme binding; protein binding; tyrosine 3-monooxygenase activity

Biological Process: anatomical structure morphogenesis; catecholamine biosynthetic process; dopamine biosynthetic process; embryonic camera-type eye morphogenesis; epinephrine biosynthetic process; eye photoreceptor cell development; heart development; learning; locomotory behavior; memory; norepinephrine biosynthetic process; organ morphogenesis; pigmentation; regulation of heart contraction; response to ethanol; response to hypoxia; synaptic transmission, dopaminergic; visual perception

Disease: Segawa Syndrome, Autosomal Recessive