KLH conjugated synthetic peptide derived from human Fumarylacetoacetate hydrolase:21-120/419
Format：
Liquid
Storage instructions：
Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Concentration：
1mg/ml
Clonality：
Polyclonal
Isotype：
IgG
Applications：
ELISA=1:5000-10000IHC-P=1:100-500IHC-F=1:100-500ICC=1:100-500IF=1:100-500（Paraffin sections need to do antigen repair）not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]
Function: Fumarylacetoacetate hydrolase is the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). This is an autosomal recessive inborn error of metabolism that occurs in both an acute and a chronic form. Clinical characteristics of the acute form include hepatic failure and death in infancy, whereas children with the chronic form have renal tubular dysfunction and hypophosphatemic rickets, progressive liver disease with development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment.
Subunit: Homodimer.
Tissue Specificity: Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
Specific References (1) | SL16194R has been referenced in 1 publications.
[IF=2.634] Gao M et al. Efficient Generation of an Fah/Rag2 Dual-Gene Knockout Porcine Cell Line Using CRISPR/Cas9and Adenovirus. DNA Cell Biol. 2019 Feb 14. ICC&IF ; Porcine.
