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

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

rs104893941 in MRNIP;SQSTM1 gene and FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3 PMID 11992264 2002 Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.

PMID 23942205 2014 Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

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

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

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 21515589 2011 A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

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

PMID 21195346 2011 Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.

PMID 19589897 2009 The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.

PMID 15493999 2004 Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.

PMID 25241215 2015 Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.

PMID 18765443 2008 A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.

rs104893941 in MRNIP;SQSTM1 gene and PAGET DISEASE OF BONE 3 PMID 11992264 2002 Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone.

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

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 15176995 2004 Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.

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

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

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 20499339 2010 Mutations of SQSTM1 are associated with severity and clinical outcome in paget disease of bone.

PMID 19589897 2009 The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts.

PMID 23942205 2014 Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

PMID 21195346 2011 Contributions of the measles virus nucleocapsid gene and the SQSTM1/p62(P392L) mutation to Paget's disease.

PMID 15647816 2005 Ubiquitin-associated domain mutations of SQSTM1 in Paget's disease of bone: evidence for a founder effect in patients of British descent.

PMID 21878516 2011 Mutant p62P392L stimulation of osteoclast differentiation in Paget's disease of bone.

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

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

PMID 15493999 2004 Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.

PMID 16813535 2006 A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype.

PMID 15765181 2005 Loss of ubiquitin-binding associated with Paget's disease of bone p62 (SQSTM1) mutations.

PMID 21515589 2011 A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.

PMID 19931284 2010 Dimerisation of the UBA domain of p62 inhibits ubiquitin binding and regulates NF-kappaB signalling.

PMID 18765443 2008 A SQSTM1/p62 mutation linked to Paget's disease increases the osteoclastogenic potential of the bone microenvironment.

PMID 17229007 2006 Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.

PMID 25241215 2015 Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.

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

PMID 26713335 2016 The Implications of the Sequestosome 1 Mutation P392L in Patients with Paget's Disease in a United States Cohort.

PMID 18543015 2008 Founder effect in different European countries for the recurrent P392L SQSTM1 mutation in Paget's Disease of Bone.

PMID 19257822 2009 Sequestosome 1 mutations in Paget's disease of bone in Australia: prevalence, genotype/phenotype correlation, and a novel non-UBA domain mutation (P364S) associated with increased NF-kappaB signaling without loss of ubiquitin binding.