CELA3A
chymotrypsin like elastase 3A
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, elastase 3A has little elastolytic activity. Like most of the human elastases, elastase 3A is secreted from the pancreas as a zymogen and, like other serine proteases such as trypsin, chymotrypsin and kallikrein, it has a digestive function in the intestine. Elastase 3A preferentially cleaves proteins after alanine residues. Elastase 3A may also function in the intestinal transport and metabolism of cholesterol. Both elastase 3A and elastase 3B have been referred to as protease E and as elastase 1. [provided by RefSeq, Jul 2008]
Known Variants29 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143304998 | 1:22,328,177 | C/T | — | uncertain significance |
| rs7533677 | 1:22,329,417 | T/C | — | — |
| rs545148620 | 1:22,329,534 | C/T | — | uncertain significance |
| rs55914307 | 1:22,331,247 | G/C | — | — |
| rs376151116 | 1:22,332,158 | G/C | — | likely benign |
| rs377420172 | 1:22,332,159 | G/T | — | uncertain significance |
| rs370867271 | 1:22,332,160 | A/C | — | uncertain significance |
| rs2550912612 | 1:22,332,218 | G/C | — | uncertain significance |
| rs780389510 | 1:22,332,222 | G/T | — | uncertain significance |
| rs74062235 | 1:22,333,237 | G/A | — | — |
| rs1470126612 | 1:22,333,381 | G/A | — | uncertain significance |
| rs113520735 | 1:22,333,447 | G/A | — | uncertain significance |
| rs200674633 | 1:22,333,472 | C/T | — | uncertain significance |
| rs138147564 | 1:22,333,884 | A/C | — | uncertain significance |
| rs1248236930 | 1:22,333,885 | C/G | — | uncertain significance |
| rs374193746 | 1:22,333,902 | G/A | — | uncertain significance |
| rs779496938 | 1:22,333,913 | G/A | — | uncertain significance |
| rs774620121 | 1:22,333,955 | A/T | — | likely benign |
| rs149807589 | 1:22,333,994 | C/T | — | uncertain significance |
| rs867765576 | 1:22,333,998 | C/T | — | uncertain significance |
| rs11589764 | 1:22,334,381 | C/A | upstream gene variant | — |
| rs6696789 | 1:22,334,415 | T/C | upstream gene variant | — |
| rs1325820434 | 1:22,336,292 | T/C | — | uncertain significance |
| rs781674213 | 1:22,336,294 | A/C | — | likely benign |
| rs572609699 | 1:22,336,295 | T/G | — | uncertain significance |
| rs773518310 | 1:22,336,297 | T/A | — | likely benign |
| rs755056238 | 1:22,336,333 | A/G | — | uncertain significance |
| rs144074674 | 1:22,336,335 | C/G | — | uncertain significance |
| rs10917111 | 1:22,337,271 | A/T | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.