CHAC1 Polyclonal Antibody, 20ul Petri Dishes Germline mutations in this gene

Germline mutations in this gene may be associated with tumor predisposition syndrome (TPDS)

Mutations in this gene result in mucopolysaccharidosis type VII

however| it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats

The protein encoded by this gene is a helix-loop-helix (HLH) protein that can form heterodimers with members of the basic HLH family of transcription factors

CHAC1 Polyclonal Antibody, 20ul Petri Dishes Germline mutations in this geneThis gene encodes a member of the gamma glutamylcyclotransferase family of proteins. The encoded protein has been shown to promote neuronal differentiation by deglycination of the Notch receptor, which prevents receptor maturation and inhibits Notch signaling. This protein may also play a role in the unfolded protein response, and in regulation of glutathione levels and oxidative balance in the cell. Elevated expression of this gene may indicate