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Center for Nephrology and Metabolic Disorders
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Zinc finger-containing protein RBCK1

The RBCK1 gene encodes a protein which interacts with various regulators. Mutations cause autosomal recessive polyglucosan body myopathy type 1 which may be accompanied by immunodeficiency.


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

Related Diseases:

Polyglucosan body myopathy type 1



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

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

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

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

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

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

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

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

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

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

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Update: Aug. 14, 2020
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