CYFIP1 Chromosome 15

Cytoplasmic FMR1 interacting protein 1
1 variant 1 Health Risk

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What This Gene Does
This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]
Gene Info
Gene Group
SCAR/WAVE complex
Locus Type
gene with protein product
Location
15q11.2
Ensembl
ENSG00000273749
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS17137190 Health Risk Conflicting classifications of pathogenicity
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