CASP8*1 Allele

Preferred Label : CASP8*1 Allele;

NCIt synonyms : Caspase 8, Apoptosis-Related Cysteine Protease*1 Allele; CASP8, c. 1207G C; CASP8, D302H; CASP8 1 Allele; Caspase 8*1 Allele;

NCIt definition : Human CASP8*1 allele is a variant form of the CASP8 gene which is located within 2q33-q34 and is approximately 54 kb in length. The wild-type allele, which encodes caspase-8 protein, is involved in apoptosis regulation. CASP8*1 allele exhibits a SNP (c.1207G C) that results in a D302H coding change, which may reduce the activity of the encoded protein. This variant may reduce the incidence of breast cancer in subjects who carry this allele.;

GenBank Accession Number : NM_001228;

SNP ID : rs1045485;

Details

Origin ID

C68810;

UMLS CUI

C2347242;

OMIM relation
- Caspase 8, apoptosis-related cysteine protease [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_associated_with_disease
- Central Nervous System Degenerative Disorder [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_has_abnormality
- CASP8 Gene Mutation [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Autoimmune Lymphoproliferative Syndrome with Germline CASP8 Mutation [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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