PAK Alpha/Beta/Gamma Polyclonal Antibody, 100ul[BT-AP06897] Bottles Mutations in this gene cause

Mutations in this gene cause nemaline myopathy type 3

tissue specificity:Isoform 1 is widely expressed (brain

an autosomal recessive disorder characterized by palmoplantar keratosis and periodontitis

They are involved in hormone biosynthesis

Genomic deletions of this gene and a neighboring gene have been found in patients with nephrogenic diabetes insipidus

PAK Alpha/Beta/Gamma Polyclonal Antibody, 100ul[BT-AP06897] Bottles Mutations in this gene causePAK1 encodes a family member of serine threonine p21 activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.