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

rs72807343 in SQSTM1 gene and Alzheimer's Disease PMID 24162737 2013 Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease.

rs1225746517 in SQSTM1 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 PMID 25114083 2015 A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

PMID 24899140 2014 Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.

PMID 24042580 2013 SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

PMID 22084127 2011 SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis.

rs796051870 in SQSTM1 gene and Frontotemporal Dementia With Motor Neuron Disease PMID 12374763 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

PMID 17129171 2007 Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

PMID 23417734 2013 Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

PMID 26208961 2015 SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

PMID 26627873 2016 Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

rs796051870 in SQSTM1 gene and PAGET DISEASE OF BONE 2, EARLY-ONSET PMID 26208961 2015 SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.

PMID 26627873 2016 Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

PMID 17129171 2007 Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

PMID 23417734 2013 Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

PMID 12374763 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

rs776749939 in SQSTM1 gene and PAGET DISEASE OF BONE 3 PMID 12374763 2002 Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease.

PMID 14584883 2003 Three novel mutations in SQSTM1 identified in familial Paget's disease of bone.

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 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 15207768 2004 Identification of SQSTM1 mutations in familial Paget's disease in Australian pedigrees.

PMID 15146436 2004 Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations.

rs10516140 in SQSTM1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10516140 in SQSTM1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.