CSTB wt Allele

Preferred Label : CSTB wt Allele;

NCIt synonyms : ULD; Cystatin B (Stefin B) Gene; EPM1; Cystatin B wt Allele; CPI-B; CST6; EPM1A; STFB; PME;

NCIt definition : Human CSTB wild-type allele is located in the vicinity of 21q22.3 and is approximately 4 kb in length. This allele, which encodes cystatin-B protein, plays a role in thiol protease inhibition. Mutation of the gene is associated with progressive myoclonic epilepsy 1A (myoclonic epilepsy of Unverricht and Lundborg).;

NCI Metathesaurus CUI : CL512128;

GenBank Accession Number : L03558;

Details

Origin ID

C128871;

UMLS CUI

C4283796;

Automatic exact mappings (from CISMeF team)
- Cystatin 6 [OMIM gene]
- Cystatin b [OMIM gene]
- Myoclonic epilepsy of unverricht and lundborg [OMIM Phenotype]
- Progressive myoclonic epilepsy [ORDO Disease]
- Progressive myoclonic epilepsy type 1 [ORDO Disease]
- cystatin B [ORDO Gene]
- posterior median eminence [UBERON concept]
- progressive myoclonus epilepsy 1A [DO Concept]
- small business [MeSH Descriptor]
OMIM relation
- Cystatin b [OMIM gene]
See also inter- (CISMeF)
- progressive myoclonus epilepsy [DO Concept]
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
- 21q22.3 [NCIt concept]
gene_plays_role_in_process
- Enzyme Inhibition [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

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