Summary
Performance
Immunogen
Application
Background
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],catalytic activity:L-tyrosine + 2-oxoglutarate = 4-hydroxyphenylpyruvate + L-glutamate.,cofactor:Pyridoxal phosphate.,disease:Defects in TAT are the cause of tyrosinemia type 2 (TYRO2) [MIM:276600]; 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.,pathway:Amino-acid degradation; L-phenylalanine degradation; acetoacetic acid and fumarate from L-phenylalanine: step 2/6.,similarity:Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family.,subunit:Homodimer.,
Research Area
Ubiquinone and other terpenoid-quinone biosynthesis;Cysteine and methionine metabolism;Tyrosine metabolism;Phenylalanine metabolism;Phenylalanine; tyrosine and tryptophan biosynthesis;
