PPIB peptidylprolyl isomerase B
Gene ID: 5479, updated on 5-May-2024Gene type: protein coding
Also known as: OI9; CYPB; SCYLP; CYP-S1; HEL-S-39
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- Go to complete Gene record for PPIB
- Go to Variation Viewer for PPIB variants
Summary
The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. [provided by RefSeq, Oct 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Osteogenesis imperfecta type 9 | See labs |
Genomic context
- Location:
- 15q22.31
- Sequence:
- Chromosome: 15; NC_000015.10 (64155817..64163022, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPIB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- Osteogenesis Imperfecta Mutation Database PPIB
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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