Dec 25, 2024 · HSPB8 (Heat Shock Protein Family B (Small) Member 8) is a Protein Coding gene. Diseases associated with HSPB8 include Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 and Charcot-Marie-Tooth Disease, Axonal, Type 2L. Among its related pathways are Cellular responses to stimuli and Cellular response to heat stress.

Heat shock protein beta-8 is a protein that in humans is encoded by the HSPB8 gene. [5][6][7] HSPB8 has been shown to interact with: Mutations in this gene have been associated with an autosomal dominant rimmed vacuolar myopathy [11] The clinical features of this condition are distal and proximal myopathy.

Feb 15, 2025 · HSPB8 is a candidate CDK-independent cyclin D1 target that can mediate its effects Displays chaperone activity, autokinase activity, and trigger or block apoptosis activity. Decrease may contribute to development of some neurologic diseases and others.

What is HSPB8 Myopathy? HSPB8 Myopathy is an ultrarare, incurable genetic disorder marked by muscle wasting and progressive weakness, typically manifesting in young adults between their 20s and 40s. This slowly progressing, autosomal dominant condition is caused by a mutation in the HSPB8 gene.

Oct 22, 2024 · Heat shock protein family B (small) member 8 (HSPB8) is a 22 kDa ubiquitously expressed protein belonging to the family of small heat shock proteins. HSPB8 is involved in various cellular mechanisms mainly related to proteotoxic stress response and in other processes such as inflammation, cell divis …

The cellular response to cancer-induced stress is one of the major aspects regulating cancer development and progression. The Heat Shock Protein B8 (HSPB8) is a small chaperone involved in chaperone-assisted selective autophagy (CASA). CASA promotes ...

由该基因编码的蛋白质属于小型热休克蛋白超家族，在分子的 C 末端部分含有一个保守的 α-晶状体蛋白结构域。 该基因在雌激素受体阳性乳腺癌细胞中由雌激素诱导表达，并且该蛋白还作为与巨自噬刺激物 Bag3 相关的伴侣蛋白发挥作用。 因此，该基因似乎参与细胞增殖、细胞凋亡和癌变的调节，并且该基因的突变与不同的神经肌肉疾病有关，包括 Charcot-Marie-Tooth 病。 [RefSeq 提供，2008 年 7 月]

Mar 10, 2016 · We found that a specific chaperone, the small heat shock protein B8 (HSPB8), recognizes and promotes the removal of the misfolded proteins associated with motoneuron diseases (MNDs)...

Apr 1, 2018 · HSPB8 tends to form small-molecular-mass oligomers and possesses a substrate dependent chaperone-like activity. HSPB8 cooperates with BAG3 to stimulate the autophagic flux and to target damaged clients to autophagy. Mutations within the crystallin domain of HSPB8 contribute to the development of some kinds of motor neuropathy.

HspB8 mutation causing hereditary distal motor neuropathy impairs lysosomal delivery of autophagosomes. Aberrant DNA methylation silences the novel heat shock protein H11 in melanoma but not benign melanocytic lesions. Sharma BK, Smith CC, Laing JM, Rucker DA, Burnett JW, Aurelian LSharma BK, et al. Dermatology, 2006. PMID 17033167.