heat shock protein family B (small) member 1
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The HSPB1 gene provides instructions for making a protein called heat shock protein beta-1. This protein is a member of the heat shock protein family, which helps protect cells that are under stress from factors such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. Heat shock proteins block signals that lead cells to self-destruct (undergo apoptosis). In addition, they appear to be involved in cell movement, stabilizing the cell's structural framework (the cytoskeleton), folding and stabilizing newly produced proteins, and repairing damaged proteins. Heat shock proteins also seem to play a role in the tensing of muscle fibers (muscle contraction).
Normal function
The HSPB1 gene provides instructions for making a protein called heat shock protein beta-1. This protein is a member of the heat shock protein family, which helps protect cells that are under stress from factors such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. Heat shock proteins block signals that lead cells to self-destruct (undergo apoptosis). In addition, they appear to be involved in cell movement, stabilizing the cell's structural framework (the cytoskeleton), folding and stabilizing newly produced proteins, and repairing damaged proteins. Heat shock proteins also seem to play a role in the tensing of muscle fibers (muscle contraction).
Heat shock protein beta-1 is found in cells throughout the body, where it interacts with other proteins and primarily helps fold newly produced proteins and refold damaged proteins. In nerve cells (neurons), heat shock protein beta-1 helps to organize a network of molecular threads called neurofilaments that maintain the structure of a part of the neuron called the axon. This allows neurons to transmit nerve impulses efficiently.
Conditions referring to this gene or chromosome
Other names
heat shock protein beta-1
HSPB1_HUMAN
SRP27
stress-responsive protein 27
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Leitura adicional e referências
- heat shock protein family B (small) member 1; MedlinePlus, National Library of Medicine.
- Ackerley S, James PA, Kalli A, French S, Davies KE, Talbot K. A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes. Hum Mol Genet. 2006 Jan 15;15(2):347-54. doi: 10.1093/hmg/ddi452. Epub 2005 Dec 20.
- Bird TD. Charcot-Marie-Tooth Hereditary Neuropathy Overview. 1998 Sep 28 [updated 2025 Nov 20]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1358/
- Datskevich PN, Nefedova VV, Sudnitsyna MV, Gusev NB. Mutations of small heat shock proteins and human congenital diseases. Biochemistry (Mosc). 2012 Dec;77(13):1500-14. doi: 10.1134/S0006297912130081.
- Dierick I, Irobi J, De Jonghe P, Timmerman V. Small heat shock proteins in inherited peripheral neuropathies. Ann Med. 2005;37(6):413-22. doi: 10.1080/07853890500296410.
- Drew AP, Blair IP, Nicholson GA. Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies. Curr Mol Med. 2011 Nov;11(8):650-65. doi: 10.2174/156652411797536714.
- Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O, Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat Genet. 2004 Jun;36(6):602-6. doi: 10.1038/ng1354. Epub 2004 May 2.
- Houlden H, Laura M, Wavrant-De Vrieze F, Blake J, Wood N, Reilly MM. Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2. Neurology. 2008 Nov 18;71(21):1660-8. doi: 10.1212/01.wnl.0000319696.14225.67. Epub 2008 Oct 1.
- Kampinga HH, Garrido C. HSPBs: small proteins with big implications in human disease. Int J Biochem Cell Biol. 2012 Oct;44(10):1706-10. doi: 10.1016/j.biocel.2012.06.005. Epub 2012 Jun 19.
- Katz M, Davis M, Garton FC, Henderson R, Bharti V, Wray N, McCombe P. Mutations in heat shock protein beta-1 (HSPB1) are associated with a range of clinical phenotypes related to different patterns of motor neuron dysfunction: A case series. J Neurol Sci. 2020 Jun 15;413:116809. doi: 10.1016/j.jns.2020.116809. Epub 2020 Mar 27.
- Nefedova VV, Muranova LK, Sudnitsyna MV, Ryzhavskaya AS, Gusev NB. Small Heat Shock Proteins and Distal Hereditary Neuropathies. Biochemistry (Mosc). 2015 Dec;80(13):1734-47. doi: 10.1134/S000629791513009X.
- Singh MK, Sharma B, Tiwari PK. The small heat shock protein Hsp27: Present understanding and future prospects. J Therm Biol. 2017 Oct;69:149-154. doi: 10.1016/j.jtherbio.2017.06.004. Epub 2017 Jun 7.
- Stetler RA, Gao Y, Signore AP, Cao G, Chen J. HSP27: mechanisms of cellular protection against neuronal injury. Curr Mol Med. 2009 Sep;9(7):863-72. doi: 10.2174/156652409789105561.
- Wettstein G, Bellaye PS, Micheau O, Bonniaud P. Small heat shock proteins and the cytoskeleton: an essential interplay for cell integrity? Int J Biochem Cell Biol. 2012 Oct;44(10):1680-6. doi: 10.1016/j.biocel.2012.05.024. Epub 2012 Jun 7.
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