COL13A1 Polyclonal Antibody, 50ul Culture Media Mutations in this gene are

Mutations in this gene are associated with achromatopsia (rod monochromacy) and color blindness

an alpha-prime

the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex

resulting in the creation of an N-terminal chain and the corresponding C-terminal chain

Mutations in this gene cause cerebellar ataxia in humans

COL13A1 Polyclonal Antibody, 50ul Culture Media Mutations in this gene areThis gene encodes the alpha chain of one of the nonfibrillar collagens. The function of this gene product is not known, however, it has been detected at low levels in all connective tissue producing cells so it may serve a general function in connective tissues. Unlike most of the collagens, which are secreted into the extracellular matrix, collagen XIII contains a transmembrane domain and the protein has been localized to the plasma membrane. The