CPA5
carboxypeptidase A5
Summary
Carboxypeptidases have functions ranging from digestion of food to selective biosynthesis of neuroendocrine peptides. Members of the A/B subfamily of carboxypeptidases, such as CPA5, contain an approximately 90-amino acid pro region that assists in the folding of the active carboxypeptidase domain. Cleavage of the pro region activates the enzyme (Wei et al., 2002 [PubMed 11836249]).[supplied by OMIM, Mar 2008]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs143616887 | 7:129,983,414 | G/A | upstream gene variant | — |
| rs199723670 | 7:129,986,352 | C/G | — | uncertain significance |
| rs191040511 | 7:129,986,381 | C/G | — | uncertain significance |
| rs782462133 | 7:129,986,421 | T/G | — | likely benign |
| rs138657131 | 7:129,987,621 | G/A | — | uncertain significance |
| rs150894289 | 7:129,989,829 | G/A | — | uncertain significance |
| rs150029079 | 7:129,989,850 | T/C | — | uncertain significance |
| rs782095077 | 7:129,989,867 | G/A | — | uncertain significance |
| rs1305749876 | 7:129,989,934 | T/C | — | uncertain significance |
| rs73152853 | 7:129,995,129 | A/G | intron variant | — |
| rs79889956 | 7:129,996,938 | G/A | regulatory region variant | — |
| rs143689037 | 7:129,999,473 | G/A | — | uncertain significance |
| rs200500417 | 7:129,999,482 | G/A | — | uncertain significance |
| rs368788884 | 7:130,001,030 | T/C | — | uncertain significance |
| rs201049041 | 7:130,001,046 | T/G | — | uncertain significance |
| rs781991130 | 7:130,002,297 | C/T | — | uncertain significance |
| rs199835023 | 7:130,002,298 | G/A | — | likely benign |
| rs140465407 | 7:130,002,307 | C/T | — | uncertain significance |
| rs782791586 | 7:130,002,339 | G/A | — | uncertain significance |
| rs782013864 | 7:130,002,789 | T/C | — | uncertain significance |
| rs145823684 | 7:130,003,272 | C/T | — | uncertain significance |
| rs782513571 | 7:130,003,311 | G/A | — | uncertain significance |
| rs17164851 | 7:130,003,487 | G/T | — | — |
| rs782362139 | 7:130,007,233 | C/T | — | uncertain significance |
| rs147989332 | 7:130,007,251 | C/G | — | uncertain significance |
| rs142001870 | 7:130,007,270 | C/T | — | uncertain significance |
| rs879946855 | 7:130,007,299 | T/C | — | uncertain significance |
| rs1342167911 | 7:130,007,333 | T/C | — | uncertain significance |
| rs782725623 | 7:130,007,389 | C/T | — | uncertain significance |
| rs2535982448 | 7:130,007,751 | A/G | — | uncertain significance |
| rs868993007 | 7:130,007,775 | C/T | — | uncertain significance |
| rs782755968 | 7:130,008,283 | T/C | — | uncertain significance |
| rs782642301 | 7:130,008,305 | C/A | — | uncertain significance |
| rs1278690980 | 7:130,008,323 | G/A | — | uncertain significance |
| rs781949565 | 7:130,008,354 | G/A | — | likely benign |
| rs781859843 | 7:130,008,375 | G/A | — | likely benign |
| rs782212383 | 7:130,008,395 | C/T | — | uncertain significance |
| rs376643555 | 7:130,008,406 | A/G | — | uncertain significance |
| rs10253113 | 7:130,009,311 | A/G | regulatory region variant | — |
| rs6975516 | 7:130,011,491 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.