QuickView for TAT (gene)

Gene Symbol:

TAT Homo sapiens

Full name:

tyrosine aminotransferase

Synonyms:

tyrosine aminotransferase, L-tyrosine:2-oxoglutarate aminotransferase, testis tissue sperm-binding protein Li 34a, tyrosine aminotransferase, cytosolic

Genomic Location:

Chr 16: 70158255-70168496

Description:

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....

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  C. elegans ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus ,  Danio rerio

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

CTTTGA_LEF1_Q2 ,  HAND1E47_01

Cytogenetic Map:

16q22.2

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