HHATL

Chr 3

hedgehog acyltransferase like

Also known as: C3orf3, GUP1, MBOAT3, MG56, MSTP002, OACT3

NCBI Gene: 57467ENSG00000010282UniProt: Q9HCP6

Predicted to be involved in negative regulation of N-terminal protein palmitoylation. Located in perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.89
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?
0.89LOEUF
pLI 0.000
Z-score 2.01
OE 0.58 (0.38–0.89)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.56Z-score
OE missense 0.91 (0.82–1.00)
275 obs / 302.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.58 (0.38–0.89)
0≤0.351.4
Missense OE?0.91 (0.82–1.00)
0≤0.61.4
Synonymous OE?0.85
0≤1.21.6
LoF obs/exp: 15 / 26.1Missense obs/exp: 275 / 302.2Syn Z: 1.29

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HHATL · 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