CELA1

Chr 12

chymotrypsin like elastase 1

Also known as: ELA1

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]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
0.98
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.98LOEUF
pLI 0.000
Z-score 1.62
OE 0.54 (0.320.98)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.70Z-score
OE missense 0.84 (0.720.97)
127 obs / 151.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.320.98)
00.351.4
Missense OE?0.84 (0.720.97)
00.61.4
Synonymous OE?1.03
01.21.6
LoF obs/exp: 8 / 14.7Missense obs/exp: 127 / 151.4Syn Z: -0.20

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CELA1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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