HSPB3
{{Short description|Protein-coding gene in the species Homo sapiens}}
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Heat shock protein beta-3 (HspB3) also known as heat shock 27kDa protein 3 is a protein that in humans is encoded by the HSPB3 gene.{{cite web | title = Entrez Gene: Heat shock 27kDa protein 3 | url = https://www.ncbi.nlm.nih.gov/gene/8988 }}
Function
This gene encodes a muscle-specific small heat shock protein.
Clinical significance
A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.
References
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Further reading
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- {{cite journal | vauthors = Fontaine JM, Sun X, Benndorf R, Welsh MJ | title = Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3 | journal = Biochemical and Biophysical Research Communications | volume = 337 | issue = 3 | pages = 1006–11 | date = November 2005 | pmid = 16225851 | doi = 10.1016/j.bbrc.2005.09.148 }}
- {{cite journal | vauthors = Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW | title = Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach | journal = Neurology | volume = 74 | issue = 6 | pages = 502–6 | date = February 2010 | pmid = 20142617 | doi = 10.1212/WNL.0b013e3181cef84a | s2cid = 35145909 }}
- {{cite journal | vauthors = Lam WY, Wing Tsui SK, Law PT, Luk SC, Fung KP, Lee CY, Waye MM | title = Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family--HSPL27 | journal = Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | volume = 1314 | issue = 1–2 | pages = 120–4 | date = November 1996 | pmid = 8972725 | doi = 10.1016/S0167-4889(96)00121-8 | doi-access = }}
- {{cite journal | vauthors = Vos MJ, Kanon B, Kampinga HH | title = HSPB7 is a SC35 speckle resident small heat shock protein | journal = Biochimica et Biophysica Acta (BBA) - Molecular Cell Research | volume = 1793 | issue = 8 | pages = 1343–53 | date = August 2009 | pmid = 19464326 | doi = 10.1016/j.bbamcr.2009.05.005 | doi-access = | s2cid = 14532832 }}
- {{cite journal | vauthors = Sugiyama Y, Suzuki A, Kishikawa M, Akutsu R, Hirose T, Waye MM, Tsui SK, Yoshida S, Ohno S | title = Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myogenic differentiation | journal = The Journal of Biological Chemistry | volume = 275 | issue = 2 | pages = 1095–104 | date = January 2000 | pmid = 10625651 | doi = 10.1074/jbc.275.2.1095 | doi-access = free }}
- {{cite journal | vauthors = Boelens WC, Van Boekel MA, De Jong WW | title = HspB3, the most deviating of the six known human small heat shock proteins | journal = Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology | volume = 1388 | issue = 2 | pages = 513–6 | date = November 1998 | pmid = 9858786 | doi = 10.1016/S0167-4838(98)00215-5 }}
- {{cite journal | vauthors = Asthana A, Raman B, Ramakrishna T, ((Rao ChM)) | title = Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension" | journal = Cell Biochemistry and Biophysics | volume = 64 | issue = 1 | pages = 61–72 | date = September 2012 | pmid = 22610661 | doi = 10.1007/s12013-012-9366-x | s2cid = 18446539 }}
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