BHE40 Rabbit Polyclonal Antibody, 20ul Centrifugal Filter Deletions and mutations in this

Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa

Alterations in this gene may also be associated with Crohn's disease

The protein binds to and negatively regulates signalling by transforming growth factor beta (TGF-beta)

which heterodimerizes with type I keratins to form hair and nails

BHE40 Rabbit Polyclonal Antibody, 20ul Centrifugal Filter Deletions and mutations in thisThis gene encodes a basic helix loop helix protein expressed in various tissues. The encoded protein can interact with ARNTL or compete for E box binding sites in the promoter of PER1 and repress CLOCK ARNTL's transactivation of PER1. This gene is believed to be involved in the control of circadian rhythm and cell differentiation.