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EGR2 early growth response 2

Also known as: AT591; CMT1D; CMT4E; KROX20

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]

Copy number response

Description
Copy number response
Haploinsufficency

No evidence available (Last evaluated (2011-11-28)

ClinGen Genome Curation Page
Triplosensitivity

No evidence available (Last evaluated (2011-11-28)

ClinGen Genome Curation Page

Genomic context

Location:
10q21.3
Sequence:
Chromosome: 10; NC_000010.11 (62811996..62819167, complement)
Total number of exons:
5

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