TELT Polyclonal Antibody, 100ul Deep Well Plates Mutations in this gene contribute

Mutations in this gene contribute to mitochondrial complex 1 deficiency

Their functions are not defined

This protein is also subject to carboxyl-terminal processing

Other genes in the cluster include those encoding interleukins 4

which associate via a single disulfide bond

TELT Polyclonal Antibody, 100ul Deep Well Plates Mutations in this gene contributeSarcomere assembly is regulated by the muscle protein titin. Titin is a giant elastic protein with kinase activity that extends half the length of a sarcomere. It serves as a scaffold to which myofibrils and other muscle related proteins are attached. This gene encodes a protein found in striated and cardiac muscle that binds to the titin Z1 Z2 domains and is a substrate of titin kinase, interactions thought to be critical to sarcomere assembly.