Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

ADP-ribolylierungsfaktor-ähnliches Protein 3

Das ARL3-Gen kodiert ein Enzym, welches auch eine Bedeutung für die normale Zilienfunktion zu besitzen scheint. Mutationen verursachen ein autosomal rezessives Joubert-Syndrom.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Joubert-Syndrom 35
ARL3

Referenzen:

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 [^]
11.

Orphanet article

Orphanet ID 502538 [^]
12.

NCBI article

NCBI 403 [^]
Update: 29. April 2019