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Open Access Articles- Top Results for EGR2

EGR2

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Identifiers
SymbolsEGR2 ; AT591; CMT1D; CMT4E; KROX20
External IDsOMIM129010 MGI95296 HomoloGene20123 GeneCards: EGR2 Gene
RNA expression pattern
File:PBB GE EGR2 205249 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez195913654
EnsemblENSG00000122877ENSMUSG00000037868
UniProtP11161P08152
RefSeq (mRNA)NM_000399NM_010118
RefSeq (protein)NP_000390NP_034248
Location (UCSC)Chr 10:
64.57 – 64.68 Mb
Chr 10:
67.54 – 67.54 Mb
PubMed search[1][2]

Early growth response protein 2 is a protein that in humans is encoded by the EGR2 gene.

Function

The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1D,[1] Dejerine–Sottas disease, [2] and Congenital Hypomyelinating Neuropathy[3]

References

  1. ^ "Entrez Gene: EGR2 early growth response 2 (Krox-20 homolog, Drosophila)". 
  2. ^ Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (Jul 2001). "EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy". Neurogenetics 3 (3): 153–7. PMID 11523566. doi:10.1007/s100480100107. 
  3. ^ Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG et al. (Apr 1998). "Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies". Nature Genetics 18 (4): 382–384. PMID 9537424. doi:10.1038/ng0498-382. 

Further reading

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External links

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