Gene: TAT

Alternate names for this Gene: -

Gene Summary: 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 cognitive disability. A regulator gene for tyrosine aminotransferase is X-linked.

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.2

Description of this Gene: tyrosine aminotransferase

Type of Gene: protein-coding