HNF-4 Alpha/Gamma Polyclonal Antibody, 20ul[BT-AP04159] High Speed Micro-Centrifuges Mutations in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)

Mutations in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase) may cause phosphohydroxylysinuria

the encoded protein initiates signalling through the CARD9-Bcl10-Malt1 pathway

and 3 cytoplasmic domains

The encoded kinase (casein kinase 1 gamma 1) plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin

or Rh-deficiency syndrome

HNF-4 Alpha/Gamma Polyclonal Antibody, 20ul[BT-AP04159] High Speed Micro-Centrifuges Mutations in PHYKPL (5-phosphohydroxy-L-lysine phospho-lyase)Hepatocyte nuclear factor 4 alpha Hepatocyte nuclear factor 4 gamma encoded by HNF4A is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been