CMT1D | definition of CMT1D by Medical dictionary
EGR2 (redirected from CMT1D)
EGR2 A gene on chromosome 10q21.1 that encodes a DNA-binding nuclear protein of the EGR family of C2H2-type zinc-finger transcriptional regulators. EGR2 acts as an E3 SUMO-protein ligase, helping SUMO1 conjugation to its co-regulators NAB1 and NAB2; NAB sumoylation downregulates EGR2’s transcriptional activity.
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References in periodicals archive
On the other hand, genetic testing provides an exact diagnosis of a specific subtype of CMT, including CMT1A, CMT1B, CMT1C, CMT1D
, CMT1F, CMTX1, CMT2A1, CMT2A2, CMT2B, and CMT2O.
TABLE 1 Clinical and genetic classification of hereditary motor and sensory neuropathy, with the linked locus and gene if known (Pestronk 2004) Pattern of Inhe- CMT-Type ritance Phenotype Locus Gene (s) Demyeli- Dominant CMT1A 17p11 PMP22 nating CMT1B; CMT1E 1q22 MPZ CMT1C 16p13 LITAF CMT1D
10q21 ERG2 CMT1F 8p21 NEFL HNPP l7p11 PMP22-deletion HMSN3 (Dejerine- PMP22/MPZ/ Sottas) EGR2/8q23 Thermosensitive ?