SKAP1 Polyclonal Antibody, 20ul CellSafe™ Mutations in this gene are

Mutations in this gene are associated with metaphyseal anadysplasia

Mutations in this gene cause corneal fleck dystrophy (CFD)

6-dihydroxyindole

Mutations in this gene cause congenital heart defects

EDEM2 belongs to a family of proteins involved in ERAD of glycoproteins

SKAP1 Polyclonal Antibody, 20ul CellSafe™ Mutations in this gene areThis gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N terminal region followed by a PH domain and C terminal SH3 domain. Along with the adhesion and degranulation promoting adaptor protein, the encoded protein plays a critical role in inside out signaling by coupling T cell