GNPTAB
Chr 12ARN-acetylglucosamine-1-phosphate transferase subunits alpha and beta
Also known as: GNPTA, ICD
The protein catalyzes the formation of mannose 6-phosphate markers on oligosaccharides in the Golgi apparatus, which are essential for proper trafficking of lysosomal enzymes to lysosomes. Mutations cause mucolipidosis II (I-cell disease) and the milder mucolipidosis IIIA (pseudo-Hurler polydystrophy), both presenting with skeletal dysplasia, coarse facial features, and developmental delay with earlier and more severe manifestations in mucolipidosis II. Inheritance is autosomal recessive.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GNPTAB · 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