SNCAIP

Chr 5

synuclein alpha interacting protein

Also known as: SYPH1, Sph1

NCBI Gene: 9627 ENSG00000064692 UniProt: Q9Y6H5 OMIM: 603779

The protein encoded by this gene interacts with alpha-synuclein in neuronal tissue and modulates protein degradation pathways through its effects on ubiquitin ligase activity. Mutations cause Parkinson's disease with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating that complete protein loss is likely incompatible with normal development.

OMIM ResearchSummary from RefSeq, UniProt

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtParkinson disease

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.55

LOEUF

Multiple*

Mechanism· predicted