CD56 Polyclonal Antibody, 100ul[BT-AP01610] Sealing Film Mutations in this gene can

Mutations in this gene can result in Wolman disease and cholesteryl ester storage disease

This receptor may play a role in vascular| renal and hepatic development

A missense mutation in RBSN is associated with a defect in the early endocytic pathway

Polymorphisms in this gene are associated with susceptibility to autoimmune thyroid diseases (AITD) such as Graves disease and Hashimoto thryoiditis

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CD56 Polyclonal Antibody, 100ul[BT-AP01610] Sealing Film Mutations in this gene canARHGAP31 (Rho GTPase activating protein 31) encodes a GTPase activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth.