HSPB3

Last updated
HSPB3
Identifiers
Aliases HSPB3 , DHMN2C, HMN2C, HSPL27, heat shock protein family B (small) member 3
External IDs OMIM: 604624 MGI: 1928479 HomoloGene: 31369 GeneCards: HSPB3
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 Mb Chr 13: 113.8 – 113.8 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/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]

Contents

Function

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

Clinical significance

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

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000169271 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000051456 - Ensembl, 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. 1 2 3 "Entrez Gene: Heat shock 27kDa protein 3".

Further reading

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