RAIDD est un gène codé par le symbole CRADD. Il est également connu sous le nom de: Death domain-containing protein CRADD; Caspase and RIP adapter with death domain; RIP-associated protein with a death domain; CRADD. RAIDD a une masse de 22.75kDa, une longueur d'acide aminé de 199, et est impliqué dans Mental retardation, autosomal recessive 34, with variant lissencephaly.
Nous proposons 10 des anticorps contre RAIDD, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA et ICC/IF avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Adapter protein that associates with PIDD1 and the caspase CASP2 to form the PIDDosome, a complex that activates CASP2 and triggers apoptosis (PubMed:9044836, PubMed:15073321, PubMed:16652156, PubMed:17159900, PubMed:17289572). Also recruits CASP2 to the TNFR-1 signaling complex through its interaction with RIPK1 and TRADD and may play a role in the tumor necrosis factor-mediated signaling pathway (PubMed:8985253).
Résumé Entrez
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.
Spécificité tissulaire
Constitutively expressed in most tissues, with particularly high expression in adult heart, testis, liver, skeletal muscle, fetal liver and kidney.
Implication dans la maladie
Mental retardation, autosomal recessive 34, with variant lissencephaly: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive 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.
Localisation cellulaire
Cytoplasm. Nucleus.
