DRG1 Chromosome 22
Developmentally regulated GTP binding protein 1
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What This Gene Does
Enables several functions, including GTPase activity; identical protein binding activity; and potassium ion binding activity. Involved in positive regulation of microtubule polymerization and regulation of mitotic spindle assembly. Located in cytosol and nuclear body. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (2)
Flexion contracture
Tan-Almurshedi syndrome
Key Variants
RS1391978939
Likely pathogenic
Flexion contracture, Flexion contracture
Health Risk
RS1459583728
Likely pathogenic
Tan-Almurshedi syndrome, Tan-Almurshedi syndrome
Health Risk
RS2517548621
Likely pathogenic
Tan-Almurshedi syndrome, Tan-Almurshedi syndrome
Health Risk
RS2518503242
Likely pathogenic
Tan-Almurshedi syndrome, Tan-Almurshedi syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1391978939 | Health Risk | Likely pathogenic | Flexion contracture, Flexion contracture |
| RS1459583728 | Health Risk | Likely pathogenic | Tan-Almurshedi syndrome, Tan-Almurshedi syndrome |
| RS2517548621 | Health Risk | Likely pathogenic | Tan-Almurshedi syndrome, Tan-Almurshedi syndrome |
| RS2518503242 | Health Risk | Likely pathogenic | Tan-Almurshedi syndrome, Tan-Almurshedi syndrome |