CELA1
chymotrypsin like elastase 1
Summary
Elastases form a subfamily of serine proteases that hydrolyze many proteins in addition to elastin. Humans have six elastase genes which encode the structurally similar proteins elastase 1, 2, 2A, 2B, 3A, and 3B. Unlike other elastases, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]
Known Variants23 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs760174773 | 12:51,723,497 | C/T | — | uncertain significance |
| rs201987434 | 12:51,723,512 | T/C | — | uncertain significance |
| rs756288078 | 12:51,723,537 | C/T | — | likely benign |
| rs1946458195 | 12:51,723,565 | T/C | — | uncertain significance |
| rs149297262 | 12:51,723,584 | T/C | — | uncertain significance |
| rs764789936 | 12:51,723,614 | C/T | — | uncertain significance |
| rs543634974 | 12:51,726,744 | C/T | — | — |
| rs3951439 | 12:51,727,596 | C/A | — | — |
| rs2501029377 | 12:51,733,654 | G/C | — | uncertain significance |
| rs774388922 | 12:51,733,657 | C/T | — | likely benign |
| rs201217801 | 12:51,733,748 | G/T | — | uncertain significance |
| rs190867789 | 12:51,733,784 | C/T | — | uncertain significance |
| rs17860312 | 12:51,735,154 | C/T | — | uncertain significance |
| rs756759654 | 12:51,736,387 | A/G | — | uncertain significance |
| rs749165998 | 12:51,736,410 | A/G | — | uncertain significance |
| rs368737365 | 12:51,736,417 | C/T | — | uncertain significance |
| rs149822025 | 12:51,736,420 | A/G | — | uncertain significance |
| rs145791288 | 12:51,736,468 | C/T | — | uncertain significance |
| rs761551489 | 12:51,736,470 | C/T | — | uncertain significance |
| rs753650586 | 12:51,736,482 | T/C | — | uncertain significance |
| rs1221347059 | 12:51,737,541 | C/T | — | uncertain significance |
| rs749726504 | 12:51,737,585 | G/T | — | uncertain significance |
| rs17860282 | 12:51,740,350 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.