PITPNB phosphatidylinositol transfer protein beta
Gene ID: 23760, updated on 3-Apr-2024Gene type: protein coding
Also known as: VIB1B; PtdInsTP; PI-TP-beta
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- Go to complete Gene record for PITPNB
- Go to Variation Viewer for PITPNB variants
Summary
This gene encodes a cytoplasmic protein that catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes. This transfer activity is required for COPI complex-mediated retrograde transport from the Golgi apparatus to the endoplasmic reticulum. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2013]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study on obesity and obesity-related traits. GeneReviews: Not available |
Genomic context
- Location:
- 22q12.1
- Sequence:
- Chromosome: 22; NC_000022.11 (27851669..27919256, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PITPNB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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