EGR2 ist ein Gen, das durch das Symbol EGR2 kodiert wird. Andere Namen sind: E3 SUMO-protein ligase AT591; E3 SUMO-protein transferase ERG2; Early growth response protein 2; EGR-2; Zinc finger protein Krox-20; KROX20. EGR2 hat eine Masse von 50.3kDa, eine Aminosäurelänge von 476, und ist an folgenden Krankheiten beteiligt: Neuropathy, congenital hypomyelinating, 1, autosomal recessive; Charcot-Marie-Tooth disease 1D; Dejerine-Sottas syndrome.
Wir bieten 9 antikörper gegen EGR2, aufgewachsen in Kaninchen, Maus und Ziege, welche geeignet sind für WB, IHC, ELISA, ICC/IF and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Sequence-specific DNA-binding transcription factor. Binds to two specific DNA sites located in the promoter region of HOXA4.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
Neuropathy, congenital hypomyelinating, 1, autosomal recessive: A severe degenerating neuropathy that results from a congenital impairment in myelin formation. It is clinically characterized by early onset of hypotonia, areflexia, distal muscle weakness, and very slow nerve conduction velocities (as low as 3m/s). Some patients manifest nearly complete absence of spontaneous limb movements, respiratory distress at birth, and complete absence of myelin shown by electron microscopy of peripheral nerves.
Charcot-Marie-Tooth disease 1D: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies 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.
Dejerine-Sottas syndrome: A severe degenerating neuropathy of the demyelinating Charcot-Marie-Tooth disease category, with onset by age 2 years. 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.
Sequenzähnlichkeiten
Belongs to the EGR C2H2-type zinc-finger protein family.
Posttranslationale Modifikation
Ubiquitinated by WWP2 leading to proteasomal degradation.
