Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Zinc-finger Protein RBCK1

Das RBCK1-Gen kodiert eine Regulatorprotein. Mutationen sind für die autosomal rezessive Polyglucosan-Körper-Myopathie Typ 1 verantwortlich, welche auch mit Immundefiziten auftreten kann.

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:

Polyglucosan-Körper-Myopathie Typ 1
RBCK1

Referenzen:

1.

Cong YS et al. (1997) The hepatitis B virus X-associated protein, XAP3, is a protein kinase C-binding protein.

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2.

Yamanaka K et al. (2003) Identification of the ubiquitin-protein ligase that recognizes oxidized IRP2.

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3.

Yoshimoto N et al. (2005) Cytoplasmic tethering of a RING protein RBCK1 by its splice variant lacking the RING domain.

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4.

Schoser B et. al. () Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.

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5.

Gerlach B et al. (2011) Linear ubiquitination prevents inflammation and regulates immune signalling.

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6.

Tokunaga F et al. (2011) SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex.

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7.

Ikeda F et al. (2011) SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis.

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8.

Boisson B et. al. (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.

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9.

Nilsson J et. al. (2013) Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1.

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10.

Wang K et. al. (2013) Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement.

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11.

Donley C et al. (2014) Identification of RBCK1 as a novel regulator of FKBPL: implications for tumor growth and response to tamoxifen.

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12.

Peltzer N et al. (2018) LUBAC is essential for embryogenesis by preventing cell death and enabling haematopoiesis.

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13.
Update: 8. Mai 2019