RALGAPB Chromosome 20
Ral GTPase activating protein non-catalytic subunit beta
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What This Gene Does
Enables protein heterodimerization activity. Predicted to be involved in Ral protein signal transduction and activation of GTPase activity. Predicted to act upstream of or within regulation of exocyst localization and regulation of protein localization. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Armadillo like helical domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
20q11.23
Ensembl
ENSG00000170471
Associated Conditions (2)
Septo-optic dysplasia sequence
Intellectual disability
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS758022116 | Health Risk | Likely pathogenic | Septo-optic dysplasia sequence, Septo-optic dysplasia sequence |
| RS2516688932 | Health Risk | Pathogenic | Intellectual disability, Intellectual disability |