CAPN1

Chr 11

calpain 1

Also known as: CANP, CANP1, CANPL1, SPG76, muCANP, muCL

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 1. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic paraplegia 76, autosomal recessive
0
Active trials
52
Pubs (1 yr)
P/LP submissions
P/LP missense
0.71
LOEUF
Multiple*
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?
0.71LOEUF
pLI 0.000
Z-score 3.16
OE 0.50 (0.360.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.68Z-score
OE missense 0.78 (0.720.85)
369 obs / 471.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.360.71)
00.351.4
Missense OE?0.78 (0.720.85)
00.61.4
Synonymous OE?0.77
01.21.6
LoF obs/exp: 23 / 46.1Missense obs/exp: 369 / 471.9Syn Z: 2.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CAPN1 · 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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