HSPB3

HSPB3
Identifiers
Aliases HSPB3, DHMN2C, HMN2C, HSPL27, heat shock protein family B (small) member 3
External IDs MGI: 1928479 HomoloGene: 31369 GeneCards: HSPB3
Orthologs
Species Human Mouse
Entrez

8988

56534

Ensembl

ENSG00000169271

ENSMUSG00000051456

UniProt

Q12988

Q9QZ57

RefSeq (mRNA)

NM_006308

NM_019960

RefSeq (protein)

NP_006299.1

NP_064344.1

Location (UCSC) Chr 5: 54.46 – 54.46 Mb Chr 13: 113.66 – 113.66 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

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.[3]

Function

This gene encodes a muscle-specific small heat shock protein.[3]

Clinical significance

A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[3]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. 1 2 3 "Entrez Gene: Heat shock 27kDa protein 3".

Further reading

  • Fontaine, J. M.; Sun, X.; Benndorf, R.; Welsh, M. J. (2005). "Interactions of HSP22 (HSPB8) with HSP20, αB-crystallin, and HSPB3". Biochemical and Biophysical Research Communications. 337 (3): 1006–1011. doi:10.1016/j.bbrc.2005.09.148. PMID 16225851. 
  • Kolb, S. J.; Snyder, P. J.; Poi, E. J.; Renard, E. A.; Bartlett, A.; Gu, S.; Sutton, S.; Arnold, W. D.; Freimer, M. L.; Lawson, V. H.; Kissel, J. T.; Prior, T. W. (2010). "Mutant small heat shock protein B3 causes motor neuropathy: Utility of a candidate gene approach". Neurology. 74 (6): 502–506. doi:10.1212/WNL.0b013e3181cef84a. PMID 20142617. 
  • Lam, W. Y.; Wing Tsui, S. K.; Law, P. T.; Luk, S. C.; Fung, K. P.; Lee, C. Y.; Waye, M. M. (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. 1314 (1–2): 120–124. doi:10.1016/S0167-4889(96)00121-8. PMID 8972725. 
  • Vos, M. J.; Kanon, B.; Kampinga, H. H. (2009). "HSPB7 is a SC35 speckle resident small heat shock protein". Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1793 (8): 1343–1353. doi:10.1016/j.bbamcr.2009.05.005. PMID 19464326. 
  • Sugiyama, Y.; Suzuki, A.; Kishikawa, M.; Akutsu, R.; Hirose, T.; Waye, M. M.; Tsui, S. K.; Yoshida, S.; Ohno, S. (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): 1095–1104. doi:10.1074/jbc.275.2.1095. PMID 10625651. 
  • Boelens, W. C.; Van Boekel, M. A.; De Jong, W. W. (1998). "HspB3, the most deviating of the six known human small heat shock proteins". Biochimica et Biophysica Acta. 1388 (2): 513–516. doi:10.1016/S0167-4838(98)00215-5. PMID 9858786. 
  • Asthana, A.; Raman, B.; Ramakrishna, T.; Rao, C. M. (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. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


This article is issued from Wikipedia - version of the 5/20/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.