Gene: GALNT3

Alternate names for this Gene: GalNAc-T3|HFTC|HFTC1|HHS

Gene Summary: This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities.

Gene is located in Chromosome: 2

Location in Chromosome : 2q24.3

Description of this Gene: polypeptide N-acetylgalactosaminyltransferase 3

Type of Gene: protein-coding

rs1968294 in GALNT3 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs137853086 in GALNT3 gene and TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 PMID 15687324 2005 A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.

PMID 15133511 2004 Mutations in GALNT3, encoding a protein involved in O-linked glycosylation, cause familial tumoral calcinosis.