Neuromuscular HOMEepAGE
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EGR2

early growth response 2

10q21.3Autosomal DominantAutosomal RecessiveDe NovoOMIM 118220
Also known as: AT591, CMT1D, CMT4E, KROX20
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Gene Summary

RefSeq / NCBI

The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Associated Conditions

HMSN III (Dejerine-Sottas)
Autosomal DominantSporadicAutosomal RecessiveNeuropathy (Hereditary)

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
ClinGen
Clinical Genome Resource
G2P
Gene-to-Phenotype (EBI)
GeneReviews
NCBI Expert-Authored Reviews
NCBI Gene
National Center for Biotechnology Information
PubMed
Biomedical Literature
UniProt
Universal Protein Resource
DECIPHER
DatabasE of genomiC varIation and Phenotype in Humans

Related Genes

PANK2pantothenate kinase 2

Gene data compiled from the Washington University Neuromuscular Disease Center, NCBI Gene, and OMIM. For clinical use, always refer to primary sources.