CD55 Polyclonal Antibody, 100ul[BT-AP01775] Buffer Solutions Mutations in this gene have

Mutations in this gene have been associated with Johanson-Blizzard syndrome

Two alternatively spliced transcript variants of CDKN2C

This gene encodes a protein belonging to the RAN-GTPase exportin family that mediates export of tRNA from the nucleus to the cytoplasm

which is associated with Leber congenital amaurosis

TBP encodes TBP

CD55 Polyclonal Antibody, 100ul[BT-AP01775] Buffer Solutions Mutations in this gene haveDDIT3 encodes a member of the CCAAT enhancer binding protein (C EBP) family of transcription factors. DNA damage inducible transcript 3 functions as a dominant negative inhibitor by forming heterodimers with other C EBP members, such as C EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis.