CLCA1

Chr 1

chloride channel accessory 1

Also known as: CACC, CACC1, CLCRG1, CaCC-1, GOB5, hCLCA1, hCaCC-1

This gene encodes a member of the calcium sensitive chloride conductance protein family. To date, all members of this gene family map to the same region on chromosome 1p31-p22 and share a high degree of homology in size, sequence, and predicted structure, but differ significantly in their tissue distributions. The encoded protein is expressed as a precursor protein that is processed into two cell-surface-associated subunits, although the site at which the precursor is cleaved has not been precisely determined. The encoded protein may be involved in mediating calcium-activated chloride conductance in the intestine. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
29
Pubs (1 yr)
P/LP submissions
P/LP missense
0.72
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?
0.72LOEUF
pLI 0.000
Z-score 2.99
OE 0.50 (0.350.72)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.71Z-score
OE missense 0.91 (0.840.98)
449 obs / 493.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.50 (0.350.72)
00.351.4
Missense OE?0.91 (0.840.98)
00.61.4
Synonymous OE?1.05
01.21.6
LoF obs/exp: 21 / 41.9Missense obs/exp: 449 / 493.1Syn Z: -0.55

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CLCA1 · 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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