Gene Symbol | EGR2 |
Entrez Gene ID | 1959 |
Full Name | early growth response 2 |
Synonyms | AT591,CMT1D,CMT4E,KROX20 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Neuropathy, congenital hypomyelinating, 1, 605253 (3); Charcot-Marie-Tooth disease, type 1D, 607678 (3); Dejerine-Sottas disease, 145900 (3) |