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

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

rs172650 in TAT-AS1;TAT gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs118203916 in TAT-AS1;TAT gene and Tyrosine Transaminase Deficiency Disease PMID 1357662 1992 Point mutations in the tyrosine aminotransferase gene in tyrosinemia type II.

PMID 16917729 2006 TAT gene mutation analysis in three Palestinian kindreds with oculocutaneous tyrosinaemia type II; characterization of a silent exonic transversion that causes complete missplicing by exon 11 skipping.

PMID 9544843 1998 Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia type II.

PMID 18577048 2008 Richner-Hanhart syndrome detected by expanded newborn screening.

PMID 28255985 2017 Tyrosinemia type II: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation.