C1R wt Allele - CISMeF

Preferred Label : C1R wt Allele;

NCIt synonyms : Complement Component 1, R Subcomponent Gene; EDS8; EDSPD1; Complement C1r wt Allele;

NCIt definition : Human C1R wild-type allele is located in the vicinity of 12p13.31 and is approximately 12 kb in length. This allele, which encodes complement C1r subcomponent protein, plays a role in the complement cascade. Mutation of the gene is associated with periodontal type Ehlers-Danlos syndrome 1.;

GenBank Accession Number : M14058;

Details

Origin ID

C200751;

OMIM relation
- Complement component 1, r subcomponent [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p13.31 [NCIt concept]
gene_is_element_in_pathway
- Classical Complement Pathway [NCIt concept]
- Complement and Coagulation Cascade [NCIt concept]
- Phagocytosis Pathway [NCIt concept]
- Systemic Lupus Erythematosus Pathway [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Proteolytic Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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