Aliases for TAT Gene
External Ids for TAT Gene
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]
GeneCards Summary for TAT Gene
TAT (Tyrosine Aminotransferase) is a Protein Coding gene. Diseases associated with TAT include hanhart syndrome and tyrosinemia, type ii. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include pyridoxal phosphate binding and L-phenylalanine:2-oxoglutarate aminotransferase activity. An important paralog of this gene is CCBL2.
UniProtKB/Swiss-Prot for TAT Gene
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.