Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The ARL3 gene encodes an enzyme that plays a role in normal cilia function. Mutations cause autosomal recessive Joubert syndrome.
| Clinic | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Ismail SA et al. (2011) Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo. 
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| 2. |
Cavenagh MM et al. (1994) ADP-ribosylation factor (ARF)-like 3, a new member of the ARF family of GTP-binding proteins cloned from human and rat tissues.
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| 3. |
None (1998) Assignment of the human ADP-ribosylation factor-like 3 (ARL3) gene to chromosome 10 band q23.3 by radiation hybrid mapping.
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| 4. |
Grayson C et al. (2002) Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
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| 5. |
Zhou C et al. (2006) Arl2 and Arl3 regulate different microtubule-dependent processes.
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| 6. |
Schrick JJ et al. (2006) ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development.
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| 7. |
Veltel S et al. (2008) The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.
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| 8. |
Veltel S et al. (2008) Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.
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| 9. |
Alkanderi S et al. (2018) ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
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| 10. |
OMIM.ORG article Omim 604695
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| 11. |
Orphanet article Orphanet ID 502538
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| 12. |
NCBI article NCBI 403
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| 13. |
Wikipedia article Wikipedia EN (ARL3)
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