CSTA wt Allele

Preferred Label : CSTA wt Allele;

NCIt synonyms : Cystatin A (Stefin A) Gene; STF1; Cystatin A wt Allele; AREI; STFA; PSS4;

NCIt definition : Human CSTA wild-type allele is located in the vicinity of 3q21 and is approximately 17 kb in length. This allele, which encodes cystatin-A protein, is involved in the inhibition of thiol proteinases and desmosome-mediated cell-cell adhesion. Mutation of the gene is associated with peeling skin syndrome 4.;

NCI Metathesaurus CUI : CL512127;

GenBank Accession Number : NM_005213;

Details

Origin ID

C128868;

UMLS CUI

C4283946;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive epidermolytic ichthyosis [ORDO Disease]
- Cystatin a [OMIM gene]
- Pancreas/duodenum homeobox protein 1 [OMIM gene]
- cystatin A [ORDO Gene]
- pancreatic and duodenal homeobox 1 [ORDO Gene]
OMIM relation
- Cystatin a [OMIM gene]
See also inter- (CISMeF)
- Peeling skin syndrome 4 [OMIM Phenotype]
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_in_chromosomal_location
- 3q21 [NCIt concept]
gene_plays_role_in_process
- Enzyme Inhibition [NCIt concept]
- Keratinocyte Differentiation [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

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