PNKD Polyclonal Antibody, 50ul Recombinant Protein Mutations in this gene have

Mutations in this gene have been shown to cause an X-linked dominant STAR syndrome that typically manifests syndactyly

also known as myosin light chain 2a (MLC2a)

Mutations in this gene have been associated with colorectal and gastric carcinomas

A PRCC-TFE3 fusion protein is expressed in affected carcinomas and is likely associated with altered gene transactivation

and regulation of autophagy

PNKD Polyclonal Antibody, 50ul Recombinant Protein Mutations in this gene haveThis gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants.