Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Joubert syndrome 35

Joubert syndrome 35 is an autosomal recessive disorder caused by mutations of the SUFU gene.

Systematic

Joubert syndrome
Joubert syndrome 01
Joubert syndrome 02
Joubert syndrome 03
Joubert syndrome 04
Joubert syndrome 05
Joubert syndrome 06
Joubert syndrome 07
Joubert syndrome 08
Joubert syndrome 09
Joubert syndrome 10
Joubert syndrome 11
Joubert syndrome 12
Joubert syndrome 13
Joubert syndrome 14
Joubert syndrome 15
Joubert syndrome 16
Joubert syndrome 17
Joubert syndrome 18
Joubert syndrome 19
Joubert syndrome 20
Joubert syndrome 21
Joubert syndrome 22
Joubert syndrome 23
Joubert syndrome 24
Joubert syndrome 25
Joubert syndrome 26
Joubert syndrome 27
Joubert syndrome 28
Joubert syndrome 29
Joubert syndrome 30
Joubert syndrome 31
Joubert syndrome 32
Joubert syndrome 33
Joubert syndrome 34
Joubert syndrome 35
ARL3

References:

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 [^]
Update: May 9, 2019