Entry Name Type Loss of function
Gene RBCK1 ranBP-type and C3HC4-type zinc finger-containing protein 1 isoform 2 [KO:
K10630 ]
Organism hsa_var Human gene variants (Homo sapiens)
Variation Network Disease H01744 Polyglucosan body myopathy
Reference Authors Manthiram K, Zhou Q, Aksentijevich I, Kastner DL
Title The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
Journal Reference Authors Aksentijevich I, Zhou Q
Title NF-kappaB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.
Journal LinkDB All DBs
