EGR2
Reaktivität: Human
WB, IF
Wirt: Maus
Polyclonal
unconjugated
Applikationshinweise
ELISA: 1: 20000approx. 1: 40000. WB: 1: 500approx. 1: 1000. Other applications not tested. Optimal dilutions are dependent on conditions and should be determined by the user.
Egr proteins function in transcription regulatory activities surrounding cellular growth, differentiation and function. The deduced amino acid sequences of human Egr-2 and mouse Egr-1 are 92 % identical in the zinc finger region but show no homology elsewhere. Egr-2 is a sequence-specific DNA-binding transcription factor that binds two specific DNA sites located in the promoter region of HoxA4 and localizes to the nucleus. Defects in the Egr-2 protein are a cause of congenital hypomyelination neuropathy (CHN). CHN is characterized clinically by early onset of hypotonia, areflexia, distal muscle weakness and very slow nerve conduction velocities. Mutations in the gene that encodes Egr-2 (EGR2) also cause of Dejerine-Sottas syndrome (DSS), which is also known as Dejerine-Sottas neuropathy (DSN) or hereditary motor and sensory neuropathy III (HMSN3). DSS patients exhibit severe early onset motor and sensory neuropathy with very slow nerve conduction velocities and elevated cerebrospinal fluid protein concentrations.Synonyms: AT591, EGR-2, Early growth response protein 2, KROX20, Krox 20, Zinc finger protein Krox-20