Gene: HSPB8

Alternate names for this Gene: CMT2L|DHMN2|E2IG1|H11|HMN2|HMN2A|HSP22

Gene Summary: The protein encoded by this gene belongs to the superfamily of small heat-shock proteins containing a conservative alpha-crystallin domain at the C-terminal part of the molecule. The expression of this gene in induced by estrogen in estrogen receptor-positive breast cancer cells, and this protein also functions as a chaperone in association with Bag3, a stimulator of macroautophagy. Thus, this gene appears to be involved in regulation of cell proliferation, apoptosis, and carcinogenesis, and mutations in this gene have been associated with different neuromuscular diseases, including Charcot-Marie-Tooth disease.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.23

Description of this Gene: heat shock protein family B (small) member 8

Type of Gene: protein-coding

Gene: LOC107984440

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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rs78852656 in HSPB8;LOC107984440 gene and Electrocardiogram: P-R interval PMID 24324551 2013 Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.

rs104894351 in HSPB8;LOC107984440 gene and NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA PMID 28144995 2017 Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.

PMID 15122253 2004 Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.