SLC35A3
Homo sapiens
Gene Name: solute carrier family 35 member A3
Aliases: AMRS
Chromosome No: 1
Chromosome Band: 1p21.2
Genetic Category: Rare single gene variant
Aliases: AMRS
Chromosome No: 1
Chromosome Band: 1p21.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 7
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 7
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Deleterious compound heterozygous variants in the SLC35A3 gene were identified in eight patients from a large kindred presenting with autism spectrum disorder, arthrogryposis, intellectual disability, and epilepsy (Edvardson et al., 2013).
Molecular Function
This gene encodes a UDP-N-acetylglucosamine transporter found in the golgi apparatus membrane. In cattle, a missense mutation in this gene causes complex vertebral malformation.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis.
ASD
Epilepsy, ID
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD
Support
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
ASD
