TAT siRNA – Tyrosine Aminotransferase (Human)

This nuclear gene encodes a mitochondrial protein tyrosine aminotransferase which is present in the liver and catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Mutations in this gene cause tyrosinemia (type II, Richner-Hanhart syndrome), a disorder accompanied by major skin and corneal lesions, with possible mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. [provided by RefSeq, Jul 2008]

TAT: Transaminase involved in tyrosine breakdown. Converts tyrosine to p-hydroxyphenylpyruvate. Can catalyze the reverse reaction, using glutamic acid, with 2-oxoglutarate as cosubstrate (in vitro). Has much lower affinity and transaminase activity towards phenylalanine. Defects in TAT are the cause of tyrosinemia type 2 (TYRO2); also known as Richner-Hanhart syndrome. TYRO2 is an inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and oculocutaneous manifestations. Typical features include palmoplantar keratosis, painful corneal ulcers, and mental retardation. Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.

Protein type: Amino Acid Metabolism - tyrosine; Amino Acid Metabolism - phenylalanine; EC 2.6.1.5; Transferase; Amino Acid Metabolism - cysteine and methionine; Cofactor and Vitamin Metabolism - ubiquinone and other terpenoid-quinone biosynthesis; Amino Acid Metabolism - phenylalanine, tyrosine and tryptophan biosynthesis; Mitochondrial

Chromosomal Location of Human Ortholog: 16q22.1

Cellular Component: mitochondrion; cytosol

Molecular Function: amino acid binding; tyrosine transaminase activity; pyridoxal phosphate binding

Biological Process: response to mercury ion; L-phenylalanine catabolic process; glutamate metabolic process; tyrosine catabolic process; response to glucocorticoid stimulus; biosynthetic process; response to oxidative stress; 2-oxoglutarate metabolic process

Disease: Tyrosinemia, Type Ii