A3GALT2

Chr 1

alpha 1,3-galactosyltransferase 2

Also known as: A3GALT2P, IGB3S, IGBS3S

NCBI Gene: 127550 ENSG00000184389 UniProt: U3KPV4 OMIM: 619850

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.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable N-acetyllactosaminide 3-alpha-galactosyltransferase activity and alpha-1,3-galactosyltransferase activity. Predicted to be involved in lipid glycosylation. Predicted to act upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be active in Golgi apparatus and vesicle. [provided by Alliance of Genome Resources, Apr 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.76

Clinical Summary— A3GALT2

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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