IDS Polyclonal Antibody, 100ul Cell Screening and Imaging Mutations in IKBKG result in

Mutations in IKBKG result in incontinentia pigmenti

48 (DFNB48)

Interacts with activated CSPG4

This gene encodes a member of the chaperonin family

which in turn phosphorylate to activate the serine/threonine specific protein kinases

IDS Polyclonal Antibody, 100ul Cell Screening and Imaging Mutations in IKBKG result inThis gene encodes a member of the sulfatase family of proteins. The encoded preproprotein is proteolytically processed to generate two polypeptide chains. This enzyme is involved in the lysosomal degradation of heparan sulfate and dermatan sulfate. Mutations in this gene are associated with the X linked lysosomal storage disease mucopolysaccharidosis type II also known as Hunter syndrome. Alternative splicing results in multiple transcript variants at