SYP
Homo sapiens
Gene Name: synaptophysin
Aliases: MRX96, MRXSYP
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Rare single gene variant
Aliases: MRX96, MRXSYP
Chromosome No: X
Chromosome Band: Xp11.23
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 9
Evidence score: 2
ASD Reports: 4
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 9
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
A de novo missense variant in the SYP gene was identified in an ASD proband (Satterstrom et al., 2020), while a maternally-inherited missense variant in this gene was identified in a male ASD proband from a cohort of 100 Vietnamese children with ASD (Tran et al., 2020). Mutations in the SYP gene had previously been identified in 4 families with X-linked mental retardation in Tarpey et al., 2009.
Molecular Function
This gene encodes an integral membrane protein of small synaptic vesicles in brain and endocrine cells. The protein also binds cholesterol and is thought to direct targeting of vesicle-associated membrane protein 2 (synaptobrevin) to intracellular compartments.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
Genetic landscape of autism spectrum disorder in Vietnamese children
ASD
Support
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation
X-linked mental retardation-96
