GALNTL6

Chr 4

polypeptide N-acetylgalactosaminyltransferase like 6

Also known as: GALNACT20, GALNT17, GalNAc-T6L

NCBI Gene: 442117ENSG00000174473UniProt: Q49A17OMIM: 615138

Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via N-acetyl-galactosamine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.82
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.82LOEUF
pLI 0.000
Z-score 2.37
OE 0.56 (0.39–0.82)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
2.14Z-score
OE missense 0.68 (0.61–0.75)
234 obs / 346.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.56 (0.39–0.82)
0≤0.351.4
Missense OE?0.68 (0.61–0.75)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 19 / 33.9Missense obs/exp: 234 / 346.0Syn Z: -0.33

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GALNTL6 · 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