ANR23 Rabbit Polyclonal Antibody, 20ul Centrifuge Tube (Bottle) 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

The active| hypophosphorylated form of the protein binds transcription factor E2F1

MIM 612725) (McConnell et al

Mutations in this gene are associated with the autosomal recessive disorder congenital disorder of glycosylation| type IIk

suggesting that this polypeptide may be targeted to the nucleus at very high expression levels

ANR23 Rabbit Polyclonal Antibody, 20ul Centrifuge Tube (Bottle) Germline mutations of the extracellularThis gene is a member of the muscle ankyrin repeat protein (MARP) family and encodes a protein with four tandem ankyrin like repeats. The protein is localized to the nucleus, functioning as a transcriptional regulator. Expression of this protein is induced during recovery following starvation.