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. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| TAT-20-RE | 20 (40 μL) | 200 μL |  |
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| TAT-20-OR | 20 (40 μL) | 200 μL |  |
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| TAT-20-GO | 20 (40 μL) | 200 μL |  |
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| TAT-20-GR | 20 (40 μL) | 200 μL |  |
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| TAT-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2008]
Gene Symbol : TAT
Gene Name : Tyrosine aminotransferase
Chromosome : CHR 16: 715,770,94-715,668,50
Locus : 16q22.2
Alt. Genes : HIPK3
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