A3GALT2
Chr 1alpha 1,3-galactosyltransferase 2
This protein synthesizes galactose-alpha(1,3)-galactose groups on glycosphingolipids by transferring galactose from UDP-galactose to acceptor molecules, particularly in the formation of isogloboside 3 (iGb3). Mutations cause congenital anomalies of kidney and urinary tract with or without hearing loss, deafness, or sensorineural hearing loss, inherited in an autosomal recessive pattern. The gene shows tolerance to loss-of-function variants (LOEUF 1.764), primarily affecting kidney and auditory systems.
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
A3GALT2 · 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