HSPB3
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.[5]
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| Aliases | HSPB3, DHMN2C, HMN2C, HSPL27, heat shock protein family B (small) member 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 604624 MGI: 1928479 HomoloGene: 31369 GeneCards: HSPB3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
This gene encodes a muscle-specific small heat shock protein.[5]
Clinical significance
A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[5]
References
- GRCh38: Ensembl release 89: ENSG00000169271 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000051456 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Heat shock 27kDa protein 3".
Further reading
- Fontaine JM, Sun X, Benndorf R, Welsh MJ (November 2005). "Interactions of HSP22 (HSPB8) with HSP20, alphaB-crystallin, and HSPB3". Biochemical and Biophysical Research Communications. 337 (3): 1006–11. doi:10.1016/j.bbrc.2005.09.148. PMID 16225851.
- Kolb SJ, Snyder PJ, Poi EJ, Renard EA, Bartlett A, Gu S, Sutton S, Arnold WD, Freimer ML, Lawson VH, Kissel JT, Prior TW (February 2010). "Mutant small heat shock protein B3 causes motor neuropathy: utility of a candidate gene approach". Neurology. 74 (6): 502–6. doi:10.1212/WNL.0b013e3181cef84a. PMID 20142617. S2CID 35145909.
- Lam WY, Wing Tsui SK, Law PT, Luk SC, Fung KP, Lee CY, Waye MM (November 1996). "Isolation and characterization of a human heart cDNA encoding a new member of the small heat shock protein family--HSPL27". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1314 (1–2): 120–4. doi:10.1016/S0167-4889(96)00121-8. PMID 8972725.
- Vos MJ, Kanon B, Kampinga HH (August 2009). "HSPB7 is a SC35 speckle resident small heat shock protein". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1793 (8): 1343–53. doi:10.1016/j.bbamcr.2009.05.005. PMID 19464326.
- Sugiyama Y, Suzuki A, Kishikawa M, Akutsu R, Hirose T, Waye MM, Tsui SK, Yoshida S, Ohno S (January 2000). "Muscle develops a specific form of small heat shock protein complex composed of MKBP/HSPB2 and HSPB3 during myogenic differentiation". The Journal of Biological Chemistry. 275 (2): 1095–104. doi:10.1074/jbc.275.2.1095. PMID 10625651.
- Boelens WC, Van Boekel MA, De Jong WW (November 1998). "HspB3, the most deviating of the six known human small heat shock proteins". Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 1388 (2): 513–6. doi:10.1016/S0167-4838(98)00215-5. PMID 9858786.
- Asthana A, Raman B, Ramakrishna T, Rao ChM (September 2012). "Structural aspects and chaperone activity of human HspB3: role of the "C-terminal extension"". Cell Biochemistry and Biophysics. 64 (1): 61–72. doi:10.1007/s12013-012-9366-x. PMID 22610661. S2CID 18446539.
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