NP_001129650.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,970 Da
NCBI Official Full Name
E3 SUMO-protein ligase EGR2 isoform a
NCBI Official Synonym Full Names
early growth response 2
NCBI Protein Information
E3 SUMO-protein ligase EGR2; zinc finger protein Krox-20; early growth response protein 2; KROX-20, Drosophila, homolog (early growth response-2)
UniProt Protein Name
E3 SUMO-protein ligase EGR2
UniProt Synonym Protein Names
AT591; Early growth response protein 2; EGR-2; Zinc finger protein Krox-20
UniProt Synonym Gene Names
UniProt Entry Name
EGR2_HUMAN
NCBI Summary for EGR2
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]
UniProt Comments for EGR2
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; DNA-binding; EC 6.3.2.-
Chromosomal Location of Human Ortholog: 10q21.1
Cellular Component: cytoplasm; nucleus
Molecular Function: protein binding; ubiquitin protein ligase binding; metal ion 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; protein export from nucleus; brain development; regulation of ossification; brain segmentation; negative regulation of apoptosis; regulation of neuronal synaptic plasticity
Disease: Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive; Hypertrophic Neuropathy Of Dejerine-sottas; Charcot-marie-tooth Disease, Demyelinating, Type 1d
Research Articles on EGR2
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with EGR2 elisa kit
Pathways associated with EGR2 elisa kit
Diseases associated with EGR2 elisa kit
Organs/Tissues associated with EGR2 elisa kit
|