HSPB3
| Heat shock 27kDa protein 3 | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||
| Symbols | HSPB3 ; DHMN2C; HMN2C; HSPL27 | ||||||||||
| External IDs | OMIM: 604624 HomoloGene: 31369 GeneCards: HSPB3 Gene | ||||||||||
| |||||||||||
| Orthologs | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | 8988 | 56534 | |||||||||
| Ensembl | ENSG00000169271 | ENSMUSG00000051456 | |||||||||
| UniProt | Q12988 | Q9QZ57 | |||||||||
| RefSeq (mRNA) | NM_006308 | NM_019960 | |||||||||
| RefSeq (protein) | NP_006299 | NP_064344 | |||||||||
| Location (UCSC) |
Chr 5: 54.46 – 54.46 Mb |
Chr 13: 113.66 – 113.66 Mb | |||||||||
| PubMed search | |||||||||||
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.[1]
Function
This gene encodes a muscle-specific small heat shock protein.[1]
Clinical significance
A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[1]
References
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.
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