CELA2A Chromosome 1
Chymotrypsin like elastase 2A
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What This Gene Does
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. Like most of the human elastases, elastase 2A is secreted from the pancreas as a zymogen. In other species, elastase 2A has been shown to preferentially cleave proteins after leucine, methionine, and phenylalanine residues. [provided by RefSeq, May 2009]
Gene Info
Gene Group
"Chymotrypsin like elastases|Elastases"
Locus Type
gene with protein product
Location
1p36.21
Ensembl
ENSG00000142615
Associated Conditions (6)
Coronary artery disorder
Hypertensive disorder
Diabetes
Hypertriglyceridemia
Abdominal obesity-metabolic syndrome 4
CELA2A-related disorder
Key Variants
RS558493952
Likely pathogenic
Coronary artery disorder, Hypertensive disorder, Diabetes
Health Risk
RS1352544800
Pathogenic
Coronary artery disorder, Diabetes, Hypertensive disorder
Health Risk
RS372947070
Pathogenic
Coronary artery disorder, Hypertriglyceridemia, Diabetes
Health Risk
RS752331004
Pathogenic
Coronary artery disorder, Diabetes, Hypertensive disorder
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS558493952 | Health Risk | Likely pathogenic | Coronary artery disorder, Hypertensive disorder, Diabetes |
| RS1352544800 | Health Risk | Pathogenic | Coronary artery disorder, Diabetes, Hypertensive disorder |
| RS372947070 | Health Risk | Pathogenic | Coronary artery disorder, Hypertriglyceridemia, Diabetes |
| RS752331004 | Health Risk | Pathogenic | Coronary artery disorder, Diabetes, Hypertensive disorder |