Gene: GALNT1

Alternate names for this Gene: GALNAC-T1

Gene Summary: 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. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature.

Gene is located in Chromosome: 18

Location in Chromosome : 18q12.2

Description of this Gene: polypeptide N-acetylgalactosaminyltransferase 1

Type of Gene: protein-coding

rs143609523 in GALNT1 gene and Child Development Disorders, Pervasive PMID 30804558 2019 Identification of common genetic risk variants for autism spectrum disorder.