ADP-ribosylation factor-like protein 3
The ARL3 gene encodes an enzyme that plays a role in normal cilia function. Mutations cause autosomal recessive Joubert syndrome.
Genetests:
Related Diseases:
References:
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Ismail SA et al. (2011) Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo.
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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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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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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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Zhou C et al. (2006) Arl2 and Arl3 regulate different microtubule-dependent processes.
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Schrick JJ et al. (2006) ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development.
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Veltel S et al. (2008) The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.
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Veltel S et al. (2008) Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.
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Alkanderi S et al. (2018) ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
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OMIM.ORG article
Omim 604695
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Orphanet article
Orphanet ID 502538
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NCBI article
NCBI 403
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13. |
Wikipedia article
Wikipedia EN (ARL3)
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Update: Aug. 14, 2020