PLD6

Chr 17

phospholipase D family member 6

Also known as: ZUC

NCBI Gene: 201164ENSG00000179598UniProt: Q8N2A8

Enables cardiolipin hydrolase activity and protein homodimerization activity. Involved in mitochondrial fusion. Acts upstream of or within positive regulation of mitochondrial fusion. Located in mitochondrial outer membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.76
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

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.76LOEUF
pLI 0.002
Z-score 0.24
OE 0.88 (0.42–1.76)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.02Z-score
OE missense 0.76 (0.65–0.89)
111 obs / 145.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.88 (0.42–1.76)
0≤0.351.4
Missense OE?0.76 (0.65–0.89)
0≤0.61.4
Synonymous OE?0.83
0≤1.21.6
LoF obs/exp: 4 / 4.6Missense obs/exp: 111 / 145.8Syn Z: 1.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLD6 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients