The LZTFL1 Polyclonal Antibody from MyBioSource.com is a Rabbit Polyclonal antibody to BBS17, and LZTFL1. This antibody recognizes Human, Mouse, and Rat antigen. The LZTFL1 Polyclonal Antibody has been validated for the following applications: ELISA, Immunohistochemistry, and Western Blot.
Description
This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants