ITPK1 Polyclonal Antibody, 20ul Stepper A loss of function mutation

A loss of function mutation in GPT2 has been associated with developmental encephalopathy

is on chromosome 4

which encodes a 100-kD type II transmembrane glycoprotein

THOC5 is ubiquitously expressed in many tissues

C1S (complement C1s) encodes a serine protease

ITPK1 Polyclonal Antibody, 20ul Stepper A loss of function mutationITPK1 encodes an enzyme that belongs to the inositol 1,3,4 trisphosphate 5 6 kinase family. This enzyme regulates the synthesis of inositol tetraphosphate, and downstream products, inositol pentakisphosphate and inositol hexakisphosphate. Inositol metabolism plays a role in the development of the neural tube. Disruptions in this gene are thought to be associated with neural tube defects. A pseudogene of this gene has been identified on chromosome X.