EGR2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human EGR2 wild-type allele is located in the vicinity of 10q21.1 and is approximately 108 kb in length. This allele, which encodes E3 SUMO-protein ligase EGR2 protein, is involved in the regulation of both gene transcription and protein modification. Mutation of the gene is associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS).

**Synonyms:** - AT591 - CMT1D - CMT4E - Early Growth Response 2 (Krox-20 Homolog, Drosophila) Gene - Early Growth Response 2 wt Allele - KROX-20, Drosophila, Homolog (Early Growth Response-2) Gene - KROX20