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CRADD CASP2 and RIPK1 domain containing adaptor with death domain

Gene ID: 8738, updated on 10-Oct-2024
Gene type: protein coding
Also known as: MRT34; RAIDD

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
GeneReviews: Not available
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
GeneReviews: Not available
Intellectual disability, autosomal recessive 34
MedGen: C3281044OMIM: 614499GeneReviews: Not available
See labs
Many sequence variants affecting diversity of adult human height.
GeneReviews: Not available

Genomic context

Location:
12q22
Sequence:
Chromosome: 12; NC_000012.12 (93677375..93894840)
Total number of exons:
10

Links

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