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Immunogen sequence: INLSVNLKGE GMSQAATICK SNFKYMYWTM LQQLTHHSVN GCNLRPGDLL ASGTISGPEP ENFGSMLELS WKGTKPIDLG NGQTRKFLLD GD
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Beta-diketonase; FAA; Fumarylacetoacetase; Fumarylacetoacetate hydrolase; fumarylacetoacetate hydrolase (fumarylacetoacetase)
基因别名: FAH
UniProt ID: (Human) P16930
Entrez Gene ID: (Human) 2184