HSPB8 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/hspb8

Heat shock protein family B (small) member 8

genes

1. Introduction

The HSPB8 gene provides instructions for making a protein called heat shock protein beta-8 (also called heat shock protein 22). This protein is a member of the heat shock protein family, which helps protect cells under adverse conditions such as infection, inflammation, exposure to toxins, elevated temperature, injury, and disease. Heat shock proteins block signals that lead to programmed cell death. In addition, they appear to be involved in activities such as cell movement (motility), stabilizing the cell's structural framework (the cytoskeleton), folding and stabilizing newly produced proteins, and repairing damaged proteins. Heat shock proteins also appear to play a role in the tensing of muscle fibers (muscle contraction).

Heat shock protein beta-8 is found in cells throughout the body and is particularly abundant in nerve cells. While its function is not well understood, it seems to interact with a related protein called heat shock protein beta-1, produced from the HSPB1 gene. In nerve cells, heat shock protein beta-1 helps to organize a network of molecular threads called neurofilaments that maintain the diameter of specialized extensions called axons. Maintaining proper axon diameter is essential for the efficient transmission of nerve impulses. The specific role that heat shock protein beta-8 plays in axons is unclear.

2. Health Conditions Related to Genetic Changes

2.1. Distal Hereditary Motor Neuropathy, Type II

Researchers have identified at least five HSPB8 gene mutations that cause a condition called distal hereditary motor neuropathy, type II. This disorder is characterized by progressive weakness, primarily in the feet and legs.

It is unclear how HSPB8 gene mutations lead to the signs and symptoms of distal hereditary motor neuropathy, type II. Research suggests that the altered heat shock protein beta-8 interacts more strongly with heat shock protein beta-1 and is more likely to form clumps (aggregates). The aggregates may block the transport of substances that are essential for the proper function of nerve axons, leading to the signs and symptoms of distal hereditary motor neuropathy, type II.

3. Other Names for This Gene

CMT2L
DHMN2
E2-induced gene 1
E2IG1
H11
heat shock 22kDa protein 8
heat shock 27kDa protein 8
heat shock protein beta-8
HMN2
HMN2A
HSP22
HspB8
HSPB8_HUMAN
protein kinase H11
small stress protein-like protein HSP22

References

Bird TD. Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview. 1998 Sep 28[updated 2020 May 14]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1358/
Datskevich PN, Nefedova VV, Sudnitsyna MV, Gusev NB. Mutations of small heatshock proteins and human congenital diseases. Biochemistry (Mosc). 2012Dec;77(13):1500-14. doi: 10.1134/S0006297912130081. Review.
Dierick I, Baets J, Irobi J, Jacobs A, De Vriendt E, Deconinck T, Merlini L,Van den Bergh P, Rasic VM, Robberecht W, Fischer D, Morales RJ, Mitrovic Z,Seeman P, Mazanec R, Kochanski A, Jordanova A, Auer-Grumbach M, Helderman-van denEnden AT, Wokke JH, Nelis E, De Jonghe P, Timmerman V. Relative contribution ofmutations in genes for autosomal dominant distal hereditary motor neuropathies: agenotype-phenotype correlation study. Brain. 2008 May;131(Pt 5):1217-27. doi:10.1093/brain/awn029.
Drew AP, Blair IP, Nicholson GA. Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future geneticstudies. Curr Mol Med. 2011 Nov;11(8):650-65. Review.
Fontaine JM, Sun X, Hoppe AD, Simon S, Vicart P, Welsh MJ, Benndorf R.Abnormal small heat shock protein interactions involving neuropathy-associatedHSP22 (HSPB8) mutants. FASEB J. 2006 Oct;20(12):2168-70.
Hu Z, Chen L, Zhang J, Li T, Tang J, Xu N, Wang X. Structure, function,property, and role in neurologic diseases and other diseases of the sHsp22. JNeurosci Res. 2007 Aug 1;85(10):2071-9. Review.
Irobi J, Van Impe K, Seeman P, Jordanova A, Dierick I, Verpoorten N, Michalik A, De Vriendt E, Jacobs A, Van Gerwen V, Vennekens K, Mazanec R, Tournev I,Hilton-Jones D, Talbot K, Kremensky I, Van Den Bosch L, Robberecht W, VanVandekerckhove J, Van Broeckhoven C, Gettemans J, De Jonghe P, Timmerman V.Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.Nat Genet. 2004 Jun;36(6):597-601.
Nefedova VV, Muranova LK, Sudnitsyna MV, Ryzhavskaya AS, Gusev NB. Small Heat Shock Proteins and Distal Hereditary Neuropathies. Biochemistry (Mosc). 2015Dec;80(13):1734-47. doi: 10.1134/S000629791513009X. Review.
Shemetov AA, Seit-Nebi AS, Gusev NB. Structure, properties, and functions ofthe human small heat-shock protein HSP22 (HspB8, H11, E2IG1): a critical review. J Neurosci Res. 2008 Feb 1;86(2):264-9. Review.
Tang BS, Zhao GH, Luo W, Xia K, Cai F, Pan Q, Zhang RX, Zhang FF, Liu XM, ChenB, Zhang C, Shen L, Jiang H, Long ZG, Dai HP. Small heat-shock protein 22 mutatedin autosomal dominant Charcot-Marie-Tooth disease type 2L. Hum Genet. 2005Feb;116(3):222-4.

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Subjects: Genetics & Heredity

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Dean Liu

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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