SPIT2 Polyclonal Antibody, 20ul Low retention tips Mutations in this gene are

Mutations in this gene are associated with autosomal dominant form of Charcot-Marie-Tooth disease type 1 (CMT1B) and other polyneuropathies

Plectin is a prominent member of an important family of structurally and in part functionally related proteins

It is mapped to chromosome 5q34 in a cluster comprised of genes encoding alpha 1 and gamma 2 subunits of the GABA A receptor

Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas

The encoded protein is a catalytic subunit of cAMP (cyclic AMP)-dependent protein kinase

SPIT2 Polyclonal Antibody, 20ul Low retention tips Mutations in this gene areThis gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene.