简介:细胞酪氨酸转氨酶抗体
Background: 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. Mutatio简介:细胞酪氨酸转氨酶抗体
Background: 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 mental retardation. A regulator gene for tyrosine aminotransferase is X-linked. Also known as: TYROSINE AMINOTRANSFERASE; tyrosine aminotransferase; MGC37772; MGC37789; MGC37790; MGC37819; MGC37828; MGC37842; TAT; ATTY_HUMAN; L-tyrosine:2-oxoglutarate aminotransferase; TAT; Tyrosine aminotransferase; Tyrosine aminotransferase, cytosolic.详细>