SSH1 Chromosome 12

Slingshot protein phosphatase 1
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the slingshot homolog (SSH) family of phosphatases, which regulate actin filament dynamics. The SSH proteins dephosphorylate and activate the actin binding/depolymerizing factor cofilin, which subsequently binds to actin filaments and stimulates their disassembly. Cofilin is inactivated by kinases such as LIM domain kinase-1 (LIMK1), which may also be dephosphorylated and inactivated by SSH proteins. The SSH family thus appears to play a role in actin dynamics by reactivating cofilin proteins. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Gene Info
Gene Group
"Slingshot protein phosphatases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
12q24.11
Ensembl
ENSG00000084112
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS61739302 Health Risk Conflicting classifications of pathogenicity
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