GALNT15
Chr 3polypeptide N-acetylgalactosaminyltransferase 15
Also known as: GALNACT15, GALNTL2, PIH5, pp-GalNAc-T15
This enzyme catalyzes the addition of N-acetylgalactosamine to proteins during O-linked glycosylation and is required for normal sperm development, particularly in acrosome formation and head-tail coupling. Mutations cause autosomal recessive male infertility due to defective spermatogenesis. The gene shows low constraint against loss-of-function variants, consistent with its specialized role in reproduction rather than essential cellular functions.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
153 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 | 22 | 0 | 22 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 108 | 2 | 0 | 110 |
Likely Benign | 0 | 5 | 4 | 1 | 10 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 113 | 29 | 1 | 143 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GALNT15 · 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