EGR2 Antibody – Rabbit Polyclonal

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]

EGR2: Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4. Defects in EGR2 are a cause of congenital hypomyelination neuropathy (CHN). Inheritance can be autosomal dominant or recessive. Recessive CHN is also known as Charcot- Marie-Tooth disease type 4E (CMT4E). CHN is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities. Defects in EGR2 are a cause of Charcot-Marie-Tooth disease type 1D (CMT1D). CMT1D is a form of Charcot- Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the CMT1 group are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. Defects in EGR2 are a cause of Dejerine-Sottas syndrome (DSS); also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS is a severe degenerating neuropathy of the demyelinating Charcot-Marie- Tooth disease category, with onset by age 2 years. DSS is characterized by motor and sensory neuropathy with very slow nerve conduction velocities, increased cerebrospinal fluid protein concentrations, hypertrophic nerve changes, delayed age of walking as well as areflexia. There are both autosomal dominant and autosomal recessive forms of Dejerine-Sottas syndrome. Belongs to the EGR C2H2-type zinc-finger protein family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: C2H2-type zinc finger protein; EC 6.3.2.-; DNA-binding

Chromosomal Location of Human Ortholog: 10q21.1

Cellular Component: cytoplasm; nucleus

Molecular Function: protein binding; metal ion binding; ubiquitin protein ligase binding; chromatin binding; transcription factor activity; ligase activity

Biological Process: transcription from RNA polymerase II promoter; myelination; fat cell differentiation; facial nerve structural organization; rhombomere 5 formation; positive regulation of transcription, DNA-dependent; motor axon guidance; peripheral nervous system development; response to insulin stimulus; Schwann cell differentiation; rhythmic behavior; protein sumoylation; learning and/or memory; rhombomere 3 formation; positive regulation of transcription from RNA polymerase II promoter; brain development; protein export from nucleus; regulation of ossification; brain segmentation; regulation of neuronal synaptic plasticity; negative regulation of apoptosis

Disease: Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive; Hypertrophic Neuropathy Of Dejerine-sottas; Charcot-marie-tooth Disease, Demyelinating, Type 1d