GALNT13
Homo sapiens
Gene Name: polypeptide N-acetylgalactosaminyltransferase 13
Aliases: GalNAc-T13; GalNAcT; GalNAc TRANSFERASE 13; pp-GalNAc-T13
Chromosome No: 2
Chromosome Band: 2q23.3-q24.1
Genetic Category: Rare Single Gene variant
Aliases: GalNAc-T13; GalNAcT; GalNAc TRANSFERASE 13; pp-GalNAc-T13
Chromosome No: 2
Chromosome Band: 2q23.3-q24.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 14
Evidence score: 2
ASD Reports: 5
Recent Reports: 1
Annotated variants: 7
Associated CNVs: 14
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare variants in the GALNT13 gene have been identified with autism (Bucan et al., 2009).
Molecular Function
The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes.
ASD
Support
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Highly Cited
Cloning and characterization of a new human UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase, designated pp-GalNAc-...
Recent Recommendation
Calsenilin and CALP interact with the cytoplasmic tail of UDP-Gal:GA2/GM2/GD2 beta-1,3-galactosyltransferase.
