HSPB8 wt Allele

Preferred Label : HSPB8 wt Allele;

NCIt synonyms : E2IG1; HMN2A; PP1629; Heat Shock 27kDa Protein 8 Gene; CMT2L; HspB8; HMN2; Heat Shock 22kDa Protein 8 wt Allele; HSP22; H11;

NCIt definition : Human HSPB8 wild-type allele is located in the vicinity of 12q24.23 and is approximately 16 kb in length. This allele, which encodes heat shock protein beta-8, is involved in the modulation of autophagy and protein folding. Mutation of the gene is associated with both distal hereditary motor neuronopathy type 2A and Charcot-Marie-Tooth disease type 2L.;

NCIt note : The HSPB8 gene may play a role in the development of tamoxifen resistance in breast cancer. (PNAS. 2011; 108: doi:10.1073/pnas.1018157108.);

GenBank Accession Number : AF191017;

Details

Origin ID

C95434;

UMLS CUI

C2987146;

False automatic mappings
- Autosomal dominant Charcot-Marie-Tooth disease type 2L [ORDO Disease]
OMIM relation
- Heat-shock 22-kd protein 8 [OMIM gene]
See also inter- (CISMeF)
- distal hereditary motor neuronopathy type 2A [DO Concept]
- neuropathy, distal hereditary motor, type IIA [MeSH Supplementary Concept]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Autophagy [NCIt concept]
- Protein Folding [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Unfolded Protein Response [NCIt concept]

Keyword's position in hierarchy(ies) :

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