RASA3 Chromosome 13
RAS p21 protein activator 3
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What This Gene Does
This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin homology (PH) domain in the C-terminal region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"Pleckstrin homology domain containing|C2 and RasGAP domain containing"
Locus Type
gene with protein product
Location
13q34
Ensembl
ENSG00000185989
Associated Conditions (1)
Short stature
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1566529937 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS746040003 | Health Risk | Pathogenic | Short stature, Short stature |