PPIB wt Allele

Preferred Label : PPIB wt Allele;

NCIt synonyms : SCYLP; CYP-S1; Peptidylprolyl Isomerase B (Cyclophilin B) wt Allele; HEL-S-39; OI9; CYPB;

NCIt definition : Human PPIB wild-type allele is located within 15q21-q22 and is approximately 7 kb in length. This allele, which encodes peptidyl-prolyl cis-trans isomerase B protein, is involved in protein folding. Mutation of the gene is associated with osteogenesis imperfecta type 9.;

GenBank Accession Number : NM_000942;

Details

Origin ID

C115180;

UMLS CUI

C3890723;

Automatic exact mappings (from CISMeF team)
- Peptidyl-prolyl isomerase b [OMIM gene]
- osteogenesis imperfecta type 9 [DO Concept]
- osteogenesis imperfecta, type IX [MeSH Supplementary Concept]
- peptidylprolyl isomerase B [ORDO Gene]
OMIM relation
- Peptidyl-prolyl isomerase b [OMIM gene]
See also inter- (CISMeF)
- Osteogenesis imperfecta, type ix [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
- 15q21-q22 [NCIt concept]
gene_is_element_in_pathway
- Syndecan-1-Mediated Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Post-Translational Modification [NCIt concept]
- Protein Folding [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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