HSPB8 heat shock protein family B (small) member 8
Gene ID: 26353, updated on 19-Sep-2024Gene type: protein coding
Also known as: H11; HMN2; CMT2L; DHMN2; E2IG1; HMN2A; HMND2; HSP22; HSPB8-N1; HSPB8-N2
- See all available tests in GTR for this gene
- Go to complete Gene record for HSPB8
- Go to Variation Viewer for HSPB8 variants
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Charcot-Marie-Tooth disease axonal type 2L | See labs |
| Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. GeneReviews: Not available | |
| Neuronopathy, distal hereditary motor, type 2A | See labs |
Genomic context
- Location:
- 12q24.23
- Sequence:
- Chromosome: 12; NC_000012.12 (119178931..119194746)
- Total number of exons:
- 3
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for HSPB8 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- HSPB8 homepage - Leiden Muscular Dystrophy pages
- IPN Mutations, HSPB8
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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