PRSS8
serine protease 8
Summary
This gene encodes a member of the peptidase S1 or chymotrypsin family of serine proteases. The encoded preproprotein is proteolytically processed to generate light and heavy chains that associate via a disulfide bond to form the heterodimeric enzyme. This enzyme is highly expressed in prostate epithelia and is one of several proteolytic enzymes found in seminal fluid. This protease exhibits trypsin-like substrate specificity, cleaving protein substrates at the carboxyl terminus of lysine or arginine residues. The encoded protease partially mediates proteolytic activation of the epithelial sodium channel, a regulator of sodium balance, and may also play a role in epithelial barrier formation. [provided by RefSeq, Feb 2016]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs562177063 | 16:31,142,834 | C/T | coding sequence variant | — |
| rs779362639 | 16:31,143,437 | G/A | — | uncertain significance |
| rs1203287059 | 16:31,143,448 | A/C | — | uncertain significance |
| rs771014780 | 16:31,143,490 | C/T | — | likely benign |
| rs755648806 | 16:31,143,500 | G/A | — | uncertain significance |
| rs375600251 | 16:31,143,833 | C/T | — | likely benign |
| rs1348566128 | 16:31,144,015 | C/T | — | uncertain significance |
| rs745405432 | 16:31,144,063 | C/T | — | uncertain significance |
| rs184261629 | 16:31,144,174 | G/T | — | uncertain significance |
| rs778674377 | 16:31,144,257 | G/A | — | uncertain significance |
| rs760018677 | 16:31,144,274 | G/A | — | likely benign |
| rs780315028 | 16:31,144,692 | G/T | — | uncertain significance |
| rs2544184417 | 16:31,144,704 | A/G | — | uncertain significance |
| rs12597511 | 16:31,145,219 | C/T | downstream gene variant | — |
| rs2057598979 | 16:31,146,492 | C/T | — | uncertain significance |
| rs148529565 | 16:31,146,797 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.