VAMP7 Polyclonal Antibody, 50ul Mini dry bath Mutations in this gene cause

Mutations in this gene cause Charcot-Marie-Tooth disease| type 2A1

This protein may also be involved in DNA damage repair by sequestering the transcriptional regulator apoptosis-antagonizing transcription factor (AATF)/Che-1 which functions as a repressor of p53-driven apoptosis

The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure

also known as Simpson dysmorphia syndrome

Induction by IFN-gamma is enhanced by TNF-alpha in monocytes| dermal fibroblasts and endothelial cells| and by IL-1 in astrocytes

VAMP7 Polyclonal Antibody, 50ul Mini dry bath Mutations in this gene causeThis gene encodes a transmembrane protein that is a member of the soluble N ethylmaleimide sensitive factor attachment protein receptor (SNARE) family. The encoded protein localizes to late endosomes and lysosomes and is involved in the fusion of transport vesicles to their target membranes. Alternate splicing results in multiple transcript variants.