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: 6
Recent Reports: 1
Annotated variants: 8
Associated CNVs: 14
Evidence score: 2
ASD Reports: 6
Recent Reports: 1
Annotated variants: 8
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
Whole genome sequencing analysis identifies sex differences of familial pattern contributing to phenotypic diversity in autism
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.
