PITPNB
phosphatidylinositol transfer protein beta
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]
Known Variants6 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1304663468 | 22:28,250,899 | G/A | — | uncertain significance |
| rs200505470 | 22:28,252,551 | G/C | — | — |
| rs150364097 | 22:28,293,809 | G/A | — | uncertain significance |
| rs1183197817 | 22:28,306,976 | G/A | — | uncertain significance |
| rs62235635 | 22:28,314,612 | G/A | regulatory region variant | — |
| rs16986969 | 22:28,314,902 | C/G | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.