GALNT8polypeptide N-acetylgalactosaminyltransferase 8
Autism Reports / Total Reports
1 / 1Rare Variants / Common Variants
1 / 0Aliases
GALNT8, GALNAC-T8Associated Syndromes
-Genetic Category
Rare Single Gene MutationChromosome Band
12p13.32Associated Disorders
-Relevance to Autism
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
Molecular Function
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.
Reports related to GALNT8 (1 Reports)
| # | Type | Title | Author, Year | Autism Report | Associated Disorders |
|---|---|---|---|---|---|
| 1 | Primary | Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights. | Kushima I , et al. (2018) | Yes | - |
Rare Variants (1)
| Status | Allele Change | Residue Change | Variant Type | Inheritance Pattern | Parental Transmission | Family Type | PubMed ID | Author, Year |
|---|---|---|---|---|---|---|---|---|
| - | - | copy_number_loss | Unknown | - | - | 30208311 | Kushima I , et al. (2018) |
Common Variants
No common variants reported.
CNVs associated with GALNT8(1 CNVs)
Sort By:
| 12p13.32 | 11 | Deletion-Duplication | 21 / 28 |