GALNT8
Homo sapiens
Gene Name: polypeptide N-acetylgalactosaminyltransferase 8
Aliases: GALNAC-T8
Chromosome No: 12
Chromosome Band: 12p13.32
Genetic Category: Rare single gene variant
Aliases: GALNAC-T8
Chromosome No: 12
Chromosome Band: 12p13.32
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 9
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 10
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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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.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.
ASD, SCZ
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
GEN1042R008
frameshift_variant
c.74del
p.Leu25ArgfsTer25
Familial
Paternal
Multiplex
GEN1042R009
frameshift_variant
c.366dup
p.Gln123ThrfsTer12
Familial
Maternal
Multiplex
Common
No Common Variants Available