CASP2 and RIPK1 Domain Containing Adaptor with Death Domain (CRADD) Antibody – Mouse Monoclonal

This gene encodes a protein containing a death domain (DD) motif. This protein recruits caspase 2/ICH1 to the cell death signal transduction complex, which includes tumor necrosis factor receptor 1 (TNFR1A) and RIPK1/RIP kinase, and acts in promoting apoptosis. A mutation in this gene was associated with cognitive disability. A related pseudogene is found on chromosome 3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

CRADD: Apoptotic adaptor molecule specific for caspase-2 and FASL/TNF receptor-interacting protein RIP. In the presence of RIP and TRADD, CRADD recruits caspase-2 to the TNFR-1 signalling complex. Defects in CRADD are the cause of mental retardation autosomal recessive type 34 (MRT34). A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRT34 is a non- syndromic form. Affected individuals have mildly delayed development and significantly impaired cognitive function, precluding independent living and self-care. Speech is rudimentary, but articulate; autism is not present.

Protein type: Adaptor/scaffold; Apoptosis

Chromosomal Location of Human Ortholog: 12q22

Cellular Component: cytoplasm; cytosol; nucleus

Molecular Function: protease binding; protein binding; protein binding, bridging

Biological Process: activation of cysteine-type endopeptidase activity involved in apoptotic process; DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; induction of apoptosis via death domain receptors; positive regulation of apoptosis; regulation of apoptosis

Disease: Mental Retardation, Autosomal Recessive 34