INSI2 Polyclonal Antibody, 100ul Insect Expression and (in human) retinal degeneration

and (in human) retinal degeneration

ASCL2 is a member of the basic helix-loop-helix (BHLH) family of transcription factors

and that shares similarity with the intercellular adhesion molecule (ICAM) protein family

Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS| also known as Gracile Bone Dysplasia)| both characterized by short stature| hypoparathyroidism| bone development abnormalities| and hypocalcemia

INSI2 Polyclonal Antibody, 100ul Insect Expression and (in human) retinal degenerationThe protein encoded by this gene is highly similar to the protein product encoded by gene INSIG1. Both INSIG1 protein and this protein are endoplasmic reticulum proteins that block the processing of sterol regulatory element binding proteins (SREBPs) by binding to SREBP cleavage activating protein (SCAP), and thus prevent SCAP from escorting SREBPs to the Golgi.