Synonyms:AT591, CHN1, CMT1D, CMT4E, EGR2, ENTREZ:1959, HGNC:3239, KROX20, MIM:129010, NM_000399, NM_001136177, NM_001136178, NM_001136179, NM_001321037, NP_000390, NP_001129649, NP_001129650, NP_001129651, NP_001307966, XM_011539427, XP_011537729, early growth response 2
Omim:OMIM:129010
Id:0db04679-da46-509f-94fb-6ac38f9361a3
Hgnc:HGNC:3239
Description:early growth response 2
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]