CCG8 Polyclonal Antibody, 50ul Glassware Germline mutations of the extracellular

Germline mutations of the extracellular domains of this receptor were found to be associated with the autosomal dominant periodic fever syndrome

This gene is part of a functionally diverse eight-member protein subfamily of the PMP-22/EMP/MP20 family

Belongs to the FOG (Friend of GATA) family

Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone| cornea| dermis and tendon

Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12

CCG8 Polyclonal Antibody, 50ul Glassware Germline mutations of the extracellularThe protein encoded by this gene is a type I transmembrane AMPA receptor regulatory protein (TARP). TARPs regulate both trafficking and channel gating of the AMPA receptors. This gene is part of a functionally diverse eight member protein subfamily of the PMP 22 EMP MP20 family and is located in a cluster with two family members, a type II TARP and a calcium channel gamma subunit. The mRNA for this gene is believed to initiate translation from a non