sequestosome 1
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The SQSTM1 gene provides instructions for making a protein called sequestosome-1. This protein helps regulate bone remodeling, a normal process in which old bone is broken down and replaced by new bone. Sequestosome-1 is involved in a chemical signaling pathway that promotes the formation and activity of bone cells called osteoclasts, which are specialized cells that break down bone tissue during bone remodeling.
Normal function
The SQSTM1 gene provides instructions for making a protein called sequestosome-1. This protein helps regulate bone remodeling, a normal process in which old bone is broken down and replaced by new bone. Sequestosome-1 is involved in a chemical signaling pathway that promotes the formation and activity of bone cells called osteoclasts, which are specialized cells that break down bone tissue during bone remodeling.
In addition to its role in bone remodeling, sequestosome-1 may have other functions, although these are less well-defined. Sequestosome-1 may be involved in recycling worn-out cell parts and unneeded proteins (autophagy), the self-destruction of cells when they are no longer needed (apoptosis), and the body's immune responses and inflammatory reactions.
Conditions referring to this gene or chromosome
Altri nomi
A170
autophagy receptor p62
OSIL
p60
p62
p62B
PDB3
ubiquitin-binding protein p62
ZIP3
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Ulteriori letture e riferimenti
- sequestosome 1; MedlinePlus, National Library of Medicine.
- Banaganapalli B, Fallatah I, Alsubhi F, Shetty PJ, Awan Z, Elango R, Shaik NA. Paget's disease: a review of the epidemiology, etiology, genetics, and treatment. Front Genet. 2023 Apr 26;14:1131182. doi: 10.3389/fgene.2023.1131182. eCollection 2023.
- Bucelli RC, Arhzaouy K, Pestronk A, Pittman SK, Rojas L, Sue CM, Evila A, Hackman P, Udd B, Harms MB, Weihl CC. SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles. Neurology. 2015 Aug 25;85(8):665-74. doi: 10.1212/WNL.0000000000001864. Epub 2015 Jul 24.
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- Davidson JM, Chung RS, Lee A. The converging roles of sequestosome-1/p62 in the molecular pathways of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Neurobiol Dis. 2022 May;166:105653. doi: 10.1016/j.nbd.2022.105653. Epub 2022 Feb 7.
- Goode A, Layfield R. Recent advances in understanding the molecular basis of Paget disease of bone. J Clin Pathol. 2010 Mar;63(3):199-203. doi: 10.1136/jcp.2009.064428. Epub 2009 Oct 26.
- Hocking LJ, Lucas GJ, Daroszewska A, Mangion J, Olavesen M, Cundy T, Nicholson GC, Ward L, Bennett ST, Wuyts W, Van Hul W, Ralston SH. Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. Hum Mol Genet. 2002 Oct 15;11(22):2735-9. doi: 10.1093/hmg/11.22.2735.
- Laurin N, Brown JP, Morissette J, Raymond V. Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. Am J Hum Genet. 2002 Jun;70(6):1582-8. doi: 10.1086/340731. Epub 2002 Apr 30.
- Morissette J, Laurin N, Brown JP. Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone. J Bone Miner Res. 2006 Dec;21 Suppl 2:P38-44. doi: 10.1359/jbmr.06s207.
- Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology. 2018 Jul 24;91(4):e319-e330. doi: 10.1212/WNL.0000000000005869. Epub 2018 Jun 29.
- Rea SL, Walsh JP, Ward L, Magno AL, Ward BK, Shaw B, Layfield R, Kent GN, Xu J, Ratajczak T. 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. J Bone Miner Res. 2009 Jul;24(7):1216-23. doi: 10.1359/jbmr.090214.
- Rendina D, Falchetti A, Diacinti D, Bertoldo F, Merlotti D, Giannini S, Cianferotti L, Girasole G, Di Monaco M, Gonnelli S, Malavolta N, Minisola S, Vescini F, Rossini M, Frediani B, Chiodini I, Asciutti F, Gennari L. Diagnosis and treatment of Paget's disease of bone: position paper from the Italian Society of Osteoporosis, Mineral Metabolism and Skeletal Diseases (SIOMMMS). J Endocrinol Invest. 2024 Jun;47(6):1335-1360. doi: 10.1007/s40618-024-02318-1. Epub 2024 Mar 15.
- Salari M, Etemadifar M, Neshat Ghalibaf M, Azizi F, Davoodi M, Asadi S. Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor. Mov Disord Clin Pract. 2023 Apr 20;10(5):835-838. doi: 10.1002/mdc3.13697. eCollection 2023 May. No abstract available.
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