Aliases: SYPH1, Sph1
Chromosome No: 5
Chromosome Band: 5q23.2
Genetic Category: Rare single gene variant
ASD Reports: 3
Recent Reports: 0
Annotated variants: 5
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
Transmission And De Novo Association (TADA) analysis of whole-genome sequencing data from a cohort of 4,551 individuals in 1,004 multiplex families having two or more autistic children identified SNCAIP as a novel ASD risk gene with a false discovery rate (FDR) less than 0.1. De novo missense variants in this gene have also been identified in three ASD probands (De Rubeis et al., 2014; Zhou et al., 2022).
Molecular Function
This gene encodes a protein containing several protein-protein interaction domains, including ankyrin-like repeats, a coiled-coil domain, and an ATP/GTP-binding motif. The encoded protein interacts with alpha-synuclein in neuronal tissue and may play a role in the formation of cytoplasmic inclusions and neurodegeneration. A mutation in this gene has been associated with Parkinson's disease.
External Links
