SPINK5 wt Allele

Preferred Label : SPINK5 wt Allele;

NCIt synonyms : FLJ99794; FLJ97596; FLJ21544; VAKTI; FLJ97536; NETS; Serine Peptidase Inhibitor Kazal Type 5 wt Allele; DKFZp686K19184; LETKI; Serine Protease Inhibitor, Kazal-Type, 5 Gene; Serine Protease Inhibitor, Kazal Type 5 Gene; NS; LEKTI;

NCIt definition : Human SPINK5 wild-type allele is located in the vicinity of 5q32 and is approximately 111 kb in length. This allele, which encodes serine protease inhibitor Kazal-type 5 protein, is involved in proteinase inhibition to maintain the integrity and protective barrier function of the skin. Mutation of the gene is associated with Netherton syndrome.;

NCI Metathesaurus CUI : CL1905159;

GenBank Accession Number : AJ228139;

Details

Origin ID

C191815;

UMLS CUI

C5780781;

OMIM relation
- Serine protease inhibitor, kazal-type, 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q32 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- Enzyme Inhibition [NCIt concept]
- Negative Regulation of Angiogenesis [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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