Description
Product Characteristics:
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.
Subcellular location: Cytoplasm
Synonyms: TYROSINE AMINOTRANSFERASE, tyrosine aminotransferase, MGC37772, MGC37789, MGC37790, MGC37819, MGC37828, MGC37842, TAT, ATTY_HUMAN, L-tyrosine:2-oxoglutarate aminotransferase, TAT, Tyrosine aminotransferase, Tyrosine aminotransferase, cytosolic.
Target Information: 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]