ARL3 Chromosome 10
ARF like GTPase 3
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What This Gene Does
Enables GDP binding activity; GTP binding activity; and microtubule binding activity. Involved in several processes, including cilium assembly; protein localization to cilium; and small GTPase-mediated signal transduction. Acts upstream of or within post-Golgi vesicle-mediated transport. Located in several cellular components, including microtubule cytoskeleton; midbody; and photoreceptor connecting cilium. Implicated in Joubert syndrome and retinitis pigmentosa 83. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
ARF GTPase family
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000138175
Associated Conditions (5)
Retinitis pigmentosa 83
Retinitis pigmentosa
Retinal dystrophy
Joubert syndrome 35
Progressive cone degeneration
Key Variants
RS1564730440
Conflicting classifications of pathogenicity
Retinitis pigmentosa 83, Retinitis pigmentosa 83
Health Risk
RS2064304102
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinitis pigmentosa
Health Risk
RS370505468
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS551366324
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
Health Risk
RS770782663
Conflicting classifications of pathogenicity
Joubert syndrome 35, Joubert syndrome 35
Health Risk
RS1590122229
Pathogenic
Progressive cone degeneration, Progressive cone degeneration
Health Risk
RS776901858
Pathogenic
Joubert syndrome 35, Joubert syndrome 35
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564730440 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 83, Retinitis pigmentosa 83 |
| RS2064304102 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinitis pigmentosa |
| RS370505468 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS551366324 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa |
| RS770782663 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 35, Joubert syndrome 35 |
| RS1590122229 | Health Risk | Pathogenic | Progressive cone degeneration, Progressive cone degeneration |
| RS776901858 | Health Risk | Pathogenic | Joubert syndrome 35, Joubert syndrome 35 |