CHST5
Homo sapiens
Gene Name: carbohydrate sulfotransferase 5
Aliases: gn6st-3
Chromosome No: 16
Chromosome Band: 16q23.1
Genetic Category: Rare Single Gene variant
Aliases: gn6st-3
Chromosome No: 16
Chromosome Band: 16q23.1
Genetic Category: Rare Single Gene variant
Summary Statistics:
ASD Reports: 6
Recent Reports: 2
Annotated variants: 2
Associated CNVs: 7
Evidence score: 2
ASD Reports: 6
Recent Reports: 2
Annotated variants: 2
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Rare mutations in the CHST5 gene have been identified with autism (O'Roak et al., 2011).
Molecular Function
Catalyzes the transfer of sulfate to position 6 of non-reducing N-acetylglucosamine residues and O-linked sugars of mucin-type acceptors.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
ASD
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Highly Cited
Matrix morphogenesis in cornea is mediated by the modification of keratan sulfate by GlcNAc 6-O-sulfotransferase.
Highly Cited
Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene.
Recent Recommendation
De Novo Synonymous Mutations in Regulatory Elements Contribute to the Genetic Etiology of Autism and Schizophrenia.
Recent Recommendation
Electron tomography reveals multiple self-association of chondroitin sulphate/dermatan sulphate proteoglycans in Chst5-null mouse corneas.