PCSK6
proprotein convertase subtilisin/kexin type 6
Summary
This gene encodes a member of the subtilisin-like proprotein convertase family, which includes proteases that process protein and peptide precursors trafficking through regulated or constitutive branches of the secretory pathway. The encoded protein undergoes an initial autocatalytic processing event in the ER to generate a heterodimer which exits the ER and sorts to the trans-Golgi network where a second autocatalytic event takes place and the catalytic activity is acquired. The encoded protease is constitutively secreted into the extracellular matrix and expressed in many tissues, including neuroendocrine, liver, gut, and brain. This gene encodes one of the seven basic amino acid-specific members which cleave their substrates at single or paired basic residues. Some of its substrates include transforming growth factor beta related proteins, proalbumin, and von Willebrand factor. This gene is thought to play a role in tumor progression and left-right patterning. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Feb 2014]
Known Variants35 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs34631529 | 15:101,845,482 | G/A | — | likely benign |
| rs2898875 | 15:101,848,990 | C/G | downstream gene variant | — |
| rs149680467 | 15:101,853,680 | G/A | — | likely benign |
| rs900414 | 15:101,854,583 | A/G | intron variant | — |
| rs45482895 | 15:101,858,536 | C/T | — | benign |
| rs117001662 | 15:101,862,775 | T/C | — | likely benign |
| rs7182874 | 15:101,865,472 | T/A | — | — |
| rs11855415 | 15:101,875,123 | A/T | intron variant | — |
| rs11632987 | 15:101,891,362 | A/G | intron variant | — |
| rs7175132 | 15:101,891,508 | A/G | intron variant | — |
| rs12593069 | 15:101,895,871 | C/T | intron variant | — |
| rs8029797 | 15:101,906,159 | T/C | — | — |
| rs756559 | 15:101,907,189 | A/G | intron variant | — |
| rs561642674 | 15:101,910,674 | C/T | — | likely benign |
| rs1555450297 | 15:101,910,686 | G/A | — | likely benign |
| rs56087436 | 15:101,910,734 | G/C | — | benign |
| rs35647788 | 15:101,914,234 | C/T | intron variant | — |
| rs1060499889 | 15:101,922,321 | A/G | — | benign |
| rs74032814 | 15:101,924,576 | C/T | — | benign |
| rs572692959 | 15:101,933,555 | G/A | — | likely benign |
| rs757404163 | 15:101,938,678 | G/A | — | likely benign |
| rs4625703 | 15:101,949,437 | C/T | — | — |
| rs117473739 | 15:101,972,225 | G/A | — | likely benign |
| rs11637184 | 15:101,991,748 | G/T | — | — |
| rs11639051 | 15:101,992,998 | C/A | regulatory region variant | — |
| rs1552950 | 15:101,994,233 | C/A | — | — |
| rs11631612 | 15:101,994,285 | C/T | regulatory region variant | — |
| rs11631270 | 15:101,994,289 | G/A | regulatory region variant | — |
| rs1552952 | 15:101,994,302 | A/G | regulatory region variant | — |
| rs4965388 | 15:102,005,125 | G/T | intron variant | — |
| rs11247296 | 15:102,007,919 | T/A | — | — |
| rs113888749 | 15:102,016,814 | C/A | intron variant | — |
| rs1193286721 | 15:102,029,775 | C/A | — | likely benign |
| rs2058129263 | 15:102,029,866 | G/A | — | uncertain significance |
| rs77098222 | 15:102,030,607 | C/T | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.