SNCAIP synuclein alpha interacting protein

Gene ID: 9627, updated on 6-Jun-2024
Gene type: protein coding
Also known as: Sph1; SYPH1

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Parkinson disease, late-onset MedGen: C3160718OMIM: 168600GeneReviews: Parkinson Disease Overview, Gaucher Disease	See labs

Genomic context

Location:: 5q23.2

Sequence:: Chromosome: 5; NC_000005.10 (122311353..122464219)

Total number of exons:: 21

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SNCAIP variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
SNCAIP database
Variation Viewer
Related Variants

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