B3GNT6 Chromosome 11

UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016]

Gene Info

Gene Group

Beta 3-glycosyltransferases

Locus Type

gene with protein product

Location

11q13.5

Ensembl

ENSG00000198488

Associated Conditions (1)

Childhood-onset schizophrenia

Key Variants

RS781821239

Likely pathogenic

Childhood-onset schizophrenia, Childhood-onset schizophrenia

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS781821239	Health Risk	Likely pathogenic	Childhood-onset schizophrenia, Childhood-onset schizophrenia