Gene Symbol | CRADD |
Entrez Gene ID | 8738 |
Full Name | CASP2 and RIPK1 domain containing adaptor with death domain |
Synonyms | MRT34,RAIDD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3) |