NLRP1 wt Allele

Preferred Label : NLRP1 wt Allele;

NCIt synonyms : DEFCAP; VAMAS1; KIAA0926; SLEV1; NALP1; NAC; PP1044; NLR Family Pyrin Domain Containing 1 wt Allele; CLR17.1; DKFZp586O1822; CARD7; DEFCAP-L/S; Systemic Lupus Erythematosus, Vitiligo-Related 1 Gene; CIDED; AIADK; NLR Family, Pyrin Domain Containing 1 Gene; NLRP1A, Mouse, Homolog of Gene; MSPC; NLRP1A;

NCIt definition : Human NLRP1 wild-type allele is located in the vicinity of 17p13.2 and is approximately 120 kb in length. This allele, which encodes NACHT, LRR and PYD domains-containing protein 1, is involved in apoptosis induction. Mutations in the gene are associated with vitiligo-associated multiple autoimmune disease susceptibility 1.;

GenBank Accession Number : AB023143;

Details

Origin ID

C104539;

UMLS CUI

C3538756;

OMIM relation
- Nlr family, pyrin domain-containing 1 [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_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Apoptosis [NCIt concept]
- Positive Regulation of Apoptosis [NCIt concept]

Keyword's position in hierarchy(ies) :

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