SRGAP1 Chromosome 12
SLIT-ROBO Rho GTPase activating protein 1
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What This Gene Does
The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
"F-BAR domain containing|AH/BAR family Rho GTPase activating proteins"
Locus Type
gene with protein product
Location
12q14.2
Ensembl
ENSG00000196935
Associated Conditions (4)
Thyroid cancer
nonmedullary
2
SRGAP1-related disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114817817 | Health Risk | Likely benign; risk factor | Thyroid cancer, nonmedullary, 2 |
| RS797044990 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 2 |