LRRC52

Chr 1

leucine rich repeat containing 52

Enables potassium channel activator activity; transmembrane transporter binding activity; and voltage-gated potassium channel activity. Involved in positive regulation of voltage-gated potassium channel activity and potassium ion transmembrane transport. Part of voltage-gated potassium channel complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.66
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?
1.66LOEUF
pLI 0.000
Z-score 0.13
OE 0.95 (0.561.66)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.04Z-score
OE missense 0.99 (0.881.13)
173 obs / 174.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.95 (0.561.66)
00.351.4
Missense OE?0.99 (0.881.13)
00.61.4
Synonymous OE?1.18
01.21.6
LoF obs/exp: 8 / 8.4Missense obs/exp: 173 / 174.4Syn Z: -1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LRRC52 · 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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