GALNT8
Chr 12polypeptide N-acetylgalactosaminyltransferase 8
Also known as: GALNAC-T8
The GALNT8 protein catalyzes the initial step of O-linked glycosylation by transferring N-acetyl-D-galactosamine to serine and threonine residues on target proteins in the Golgi apparatus. Mutations in GALNT8 cause autosomal recessive intellectual developmental disorder with cardiac arrhythmia, affecting neurological development and cardiac conduction. The gene shows tolerance to loss-of-function variants (low constraint), which is consistent with the recessive inheritance pattern observed in affected families.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
172 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 52 | 0 | 52 |
Likely Pathogenic | 0 | 0 | 5 | 0 | 5 |
VUS | 0 | 90 | 7 | 0 | 97 |
Likely Benign | 0 | 5 | 0 | 0 | 5 |
Benign | 0 | 3 | 1 | 1 | 5 |
Conflicting | — | 1 | |||
| Total | 0 | 98 | 65 | 1 | 165 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GALNT8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools