PANK1

Chr 10

pantothenate kinase 1

NCBI Gene: 53354ENSG00000152782UniProt: Q8TE04OMIM: 606160

Catalyzes the phosphorylation of pantothenate to generate 4'-phosphopantothenate in the first and rate-determining step of coenzyme A (CoA) synthesis

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.69
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.69LOEUF
pLI 0.003
Z-score 2.63
OE 0.38 (0.22–0.69)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.59Z-score
OE missense 0.75 (0.67–0.83)
238 obs / 317.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.22–0.69)
0≤0.351.4
Missense OE?0.75 (0.67–0.83)
0≤0.61.4
Synonymous OE?0.97
0≤1.21.6
LoF obs/exp: 8 / 21.0Missense obs/exp: 238 / 317.9Syn Z: 0.27

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

PANK1 · 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