SIPA1 Chromosome 11

Signal-induced proliferation-associated 1
1 variant 1 Health Risk

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What This Gene Does
The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"PDZ domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000213445
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS150937195 Health Risk Conflicting classifications of pathogenicity
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