SNAI2 Rabbit Polyclonal Antibody, 20ul Immunoassays Mutations in this gene have

Mutations in this gene have been shown to be a cause of Kabuki syndrome

Symptoms associated with mutations in COL1A2

This protein undergoes gamma-secretase dependent RIP- (regulated intramembrane proteolysis) processing but the precise locations of the cleavage sites have not been determined

and catalyzes the formation of fatty acid-cholesterol esters

Most of the mass of the pol I complex derives from the 2 largest subunits

SNAI2 Rabbit Polyclonal Antibody, 20ul Immunoassays Mutations in this gene haveThis gene encodes a member of the Snail family of C2H2 type zinc finger transcription factors. The encoded protein acts as a transcriptional repressor that binds to E box motifs and is also likely to repress E cadherin transcription in breast carcinoma. This protein is involved in epithelial mesenchymal transitions and has antiapoptotic activity. Mutations in this gene may be associated with sporatic cases of neural tube defects.