Gene: SQSTM1
Alternate names for this Gene: A170|DMRV|FTDALS3|NADGP|OSIL|PDB3|ZIP3|p60|p62|p62B
Gene Summary: This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone.
Gene is located in Chromosome: 5
Location in Chromosome : 5q35.3
Description of this Gene: sequestosome 1
Type of Gene: protein-coding
Gene: MRNIP
Alternate names for this Gene: C5orf45
Gene Summary:
Gene is located in Chromosome: 5
Location in Chromosome : 5q35.3
Description of this Gene: MRN complex interacting protein
Type of Gene: protein-coding
rs771966860 in
SQSTM1;MRNIP gene and
PAGET DISEASE OF BONE 3
PMID 15176995 2004 Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
PMID 15125799 2004 Two novel mutations at exon 8 of the Sequestosome 1 (SQSTM1) gene in an Italian series of patients affected by Paget's disease of bone (PDB).
PMID 15146436 2004 Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.
PMID 12374763 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.
PMID 15207768 2004 Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.
PMID 19931284 2010 Dimerisation of the UBA domain of p62 inhibits ubiquitin binding and regulates NF-kappaB signalling.
PMID 11992264 2002 Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.
PMID 14584883 2003 Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.