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

rs1565930588 in HSPB8 gene and Abnormal muscle tone PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

rs1565930588 in HSPB8 gene and Broad-based gait PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

rs1565930588 in HSPB8 gene and Difficulty walking PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

rs1565930588 in HSPB8 gene and Difficulty walking up stairs PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

rs1565930588 in HSPB8 gene and Distal Muscular Dystrophies PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

rs1565930588 in HSPB8 gene and Frequent falls PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

rs1565930588 in HSPB8 gene and Gait imbalance PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

rs1565930588 in HSPB8 gene and Gait, Drop Foot PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

rs1565930588 in HSPB8 gene and Gowers sign PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

rs1565930588 in HSPB8 gene and Hypertensive disease PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

rs1565930588 in HSPB8 gene and Lipoma PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

rs1565930588 in HSPB8 gene and Low Back Pain PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

rs1565930588 in HSPB8 gene and Muscle Weakness Lower Limb PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

rs1565930588 in HSPB8 gene and Muscle Weakness Upper Limb PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

rs1565930588 in HSPB8 gene and Muscular Dystrophy PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

rs1565930588 in HSPB8 gene and Myopathy PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

rs1565930588 in HSPB8 gene and Peripheral motor neuropathy PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

rs1565930588 in HSPB8 gene and Progressive muscle weakness PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.

PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

rs1565930588 in HSPB8 gene and Shoulder girdle muscle atrophy PMID 28501893 2017 HSPB8 haploinsufficiency causes dominant adult-onset axial and distal myopathy.

PMID 26976520 2016 Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.

PMID 29029362 2018 Altered TDP-43-dependent splicing in HSPB8-related distal hereditary motor neuropathy and myofibrillar myopathy.