GALNT8 Chromosome 12

Polypeptide N-acetylgalactosaminyltransferase 8
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Polypeptide N-acetylgalactosaminyltransferases
Locus Type
gene with protein product
Location
12p13.32
Ensembl
ENSG00000130035
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS142410021 Health Risk Conflicting classifications of pathogenicity
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