CPA1 Chromosome 7
Carboxypeptidase A1
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What This Gene Does
This gene encodes a member of the carboxypeptidase A family of zinc metalloproteases. This enzyme is produced in the pancreas and preferentially cleaves C-terminal branched-chain and aromatic amino acids from dietary proteins. This gene and several family members are present in a gene cluster on chromosome 7. Mutations in this gene may be linked to chronic pancreatitis, while elevated protein levels may be associated with pancreatic cancer. [provided by RefSeq, Jan 2015]
Gene Info
Gene Group
M14 carboxypeptidases
Locus Type
gene with protein product
Location
7q32.2
Ensembl
ENSG00000091704
Associated Conditions (2)
Hereditary pancreatitis
CPA1-related disorder
Key Variants
RS1051725707
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS114365673
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1303947345
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1378007993
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1387498138
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1418197645
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS142127319
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS144546424
Conflicting classifications of pathogenicity
Hereditary pancreatitis, CPA1-related disorder, Hereditary pancreatitis
Health Risk
RS1554411224
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1584851947
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1796390308
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
RS1796406634
Conflicting classifications of pathogenicity
Hereditary pancreatitis, Hereditary pancreatitis
Health Risk
All Variants (41)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1051725707 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS114365673 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1303947345 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1378007993 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1387498138 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1418197645 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS142127319 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS144546424 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, CPA1-related disorder, Hereditary pancreatitis |
| RS1554411224 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1584851947 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1796390308 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1796406634 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1796431541 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS1796448992 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS201705049 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS371401173 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS41274176 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS532631461 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS533389472 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS537519042 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS540251433 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis, Hereditary pancreatitis |
| RS548306438 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS559471767 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS574196558 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS577008275 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS781815975 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782273120 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782301578 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782338563 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782417364 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782428216 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782458397 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782638392 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782645631 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782702163 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782790782 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis |
| RS782790983 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, CPA1-related disorder, Hereditary pancreatitis |
| RS997840503 | Health Risk | Conflicting classifications of pathogenicity | Hereditary pancreatitis, Hereditary pancreatitis, Hereditary pancreatitis |
| RS1796449608 | Health Risk | Likely pathogenic | — |
| RS2117509052 | Health Risk | Likely pathogenic | — |
| RS781820716 | Health Risk | Pathogenic | — |