PIXBeta Polyclonal Antibody, 50ul Vortex Mixer Mutations in this gene have

Mutations in this gene have been associated with gnathodiaphyseal dysplasia

In addition to being critical for mRNA splicing

The encoded protein is a neuron-specific| serine/threonine and tyrosine kinase| which regulates phosphorylation of tau| a protein that associates with microtubule assemblies and stabilizes them

An inactive pseudogene of this locus is located at an adjacent region on chromosome 3

PIXBeta Polyclonal Antibody, 50ul Vortex Mixer Mutations in this gene haveARHGEF7 (Rho guanine nucleotide exchange factor 7) encodes a protein that belongs to a family of cytoplasmic proteins that activate the Ras like family of Rho proteins by exchanging bound GDP for GTP. It forms a complex with the small GTP binding protein Rac1 and recruits Rac1 to membrane ruffles and to focal adhesions. Multiple alternatively spliced transcript variants encoding different isoforms have been observed for ARHGEF7.