About: HSPB8 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • HSPB8 wt Allele
rdfs:subClassOf
OMIM_Number
  • 608014
GenBank_Accession_Number
  • AF191017
Semantic_Type
  • Gene or Genome
Preferred_Name
  • HSPB8 wt Allele
UMLS_CUI
  • C2987146
EntrezGene_ID
  • 26353
HGNC_ID
  • HGNC:30171
FULL_SYN
  • Heat Shock 22kDa Protein 8 wt AlleleSYNCI
  • H11SYNCI
  • HSPB8 wt AllelePTNCI
  • HMN2SYNCI
  • E2IG1SYNCI
  • HSP22SYNCI
  • HMN2ASYNCI
  • CMT2LSYNCI
  • HspB8SYNCI
  • PP1629SYNCI
  • Heat Shock 27kDa Protein 8 GeneSYNCI
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.NCI
DesignNote
  • The HSPB8 gene may play a role in the development of tamoxifen resistance in breast cancer. (PNAS. 2011; 108: doi:10.1073/pnas.1018157108.)
code
  • C95434
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