RBCC Red Blood Cell Collection

CRADD_HUMAN

Source: PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence: low (only semi-automatic identification from reviews) Search PubMed for
(RBC AND this entry)
Gene names: CRADD , RAIDD
Protein names and data: CRADD_HUMAN , Death domain-containing protein CRADD , Caspase and RIP adapter with death domain; RIP-associated protein with a death domain Lenght: 199 a.a.
Mass: 22745 Da
fasta formatted sequence
Function: 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.
Disease: ( OMIM: 603454 614499 ) Mental retardation, autosomal recessive 34 (MRT34) [MIM:614499]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Cellular location: Cytoplasm (By similarity). Nucleus (By similarity).
Tissue specificity: Constitutively expressed in most tissues, with particularly high expression in adult heart, testis, liver, skeletal muscle, fetal liver and kidney.

Genetic variants

128 - 128 G -> R (in MRT34). VAR_067536

Database cross-references

UniProt: P78560
Ensembl: ENST00000332896
Ensembl: ENST00000542893
MIM: 603454
MIM: 614499
neXtProt: NX_P78560
Antibodypedia: P78560 (may not find the protein thus also not any antibody)
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