rs761551489

This variant is located in the CELA1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About CELA1

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, pancreatic elastase 1 is not expressed in the pancreas. To date, elastase 1 expression has only been detected in skin keratinocytes. Clinical literature that describes human elastase 1 activity in the pancreas or fecal material is actually referring to chymotrypsin-like elastase family, member 3B. [provided by RefSeq, May 2009]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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