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

Gene: TAT-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 16

Location in Chromosome : 16q22.2

Description of this Gene: TAT antisense RNA 1

Type of Gene: ncRNA

rs1477386 in TAT;TAT-AS1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs118203914 in TAT;TAT-AS1 gene and Tyrosine Transaminase Deficiency Disease PMID 9544843 1998 Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.

PMID 27832414 2017 Herpetiform keratitis and palmoplantar hyperkeratosis: warning signs for Richner-Hanhart syndrome.