rs372947070

This variant is located in the CELA2A gene.

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ClinVar annotation

Pathogenic★★★☆

4 submitters2 publications

Coronary artery disorder;Hypertriglyceridemia;Diabetes;Hypertensive disorder; CELA2A-related disorder; Abdominal obesity-metabolic syndrome 4

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About CELA2A

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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