CLPS
colipase
Summary
The protein encoded by this gene is a cofactor needed by pancreatic lipase for efficient dietary lipid hydrolysis. It binds to the C-terminal, non-catalytic domain of lipase, thereby stabilizing an active conformation and considerably increasing the overall hydrophobic binding site. The gene product allows lipase to anchor noncovalently to the surface of lipid micelles, counteracting the destabilizing influence of intestinal bile salts. This cofactor is only expressed in pancreatic acinar cells, suggesting regulation of expression by tissue-specific elements. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs41270082 | 6:35,762,937 | G/A | missense variant | — |
| rs148028295 | 6:35,763,305 | C/A | downstream gene variant | — |
| rs113528670 | 6:35,763,565 | C/T | — | benign |
| rs760509453 | 6:35,763,612 | T/C | — | uncertain significance |
| rs9470101 | 6:35,764,370 | G/A | — | — |
| rs2766594 | 6:35,764,540 | A/G | downstream gene variant | — |
| rs2766595 | 6:35,764,570 | G/A | — | benign |
| rs3748051 | 6:35,764,943 | T/C | regulatory region variant | — |
| rs1768391383 | 6:35,765,019 | T/C | — | uncertain significance |
| rs2766597 | 6:35,765,043 | A/G | missense variant | — |
| rs3748050 | 6:35,765,068 | T/C | regulatory region variant | — |
| rs142027015 | 6:35,765,176 | C/A | — | — |
| rs3748048 | 6:35,765,177 | G/T | — | — |
| rs73404011 | 6:35,765,355 | G/C | — | — |
| rs72925892 | 6:35,766,210 | C/T | regulatory region variant | — |
| rs111529018 | 6:35,766,937 | T/A | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.