CFHR5 wt Allele

Preferred Label : CFHR5 wt Allele;

NCIt synonyms : CFHL5; Complement Factor H Related 5 wt Allele; Complement Factor H-Related 5 Gene; Factor H-Related Gene 5; FHR-5; CFHR5D; FHR5;

NCIt definition : Human CFHR5 wild-type allele is located in the vicinity of 1q31.3 and is approximately 35 kb in length. This allele, which encodes complement factor H-related protein 5, is involved in binding to activated complement components. Mutation of the gene is associated with nephropathy due to CFHR5 deficiency (C3 glomerulopathy 3).;

NCI Metathesaurus CUI : CL1905789;

GenBank Accession Number : AF295327;

Details

Origin ID

C198624;

UMLS CUI

C5849099;

OMIM relation
- Complement factor h-related 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q31.3 [NCIt concept]
gene_is_element_in_pathway
- Complement and Coagulation Cascade [NCIt concept]
gene_plays_role_in_process
- Complement Activation [NCIt concept]

Keyword's position in hierarchy(ies) :

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