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HSPB3

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HSPB3
Identifiers
AliasesHSPB3, DHMN2C, HMN2C, HSPL27, heat shock protein family B (small) member 3
External IDsOMIM: 604624; MGI: 1928479; HomoloGene: 31369; GeneCards: HSPB3; OMA:HSPB3 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_006308

NM_019960

RefSeq (protein)

NP_006299

NP_064344

Location (UCSC)Chr 5: 54.46 – 54.46 MbChr 13: 113.8 – 113.8 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Heat shock protein beta-3 (HspB3) also known as heat shock 27kDa protein 3 is a protein that in humans is encoded by the HSPB3 gene.[5]

Function

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This gene encodes a muscle-specific small heat shock protein.[5]

Clinical significance

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A mutation in this gene is the cause of autosomal dominant distal hereditary motor neuropathy type 2C.[5]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000169271Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000051456Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: Heat shock 27kDa protein 3".

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.