EGR2 Polyclonal Antibody, APC-Cy5.5 Conjugated

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 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.

CMT1D; CMT4E; DKFZp686J1957; Early growth response 2; Early growth response protein 2; EGR-2; egr2; EGR2_HUMAN; FLJ14547; KROX 20 Drosophila homolog; Krox 20 homolog Drosophila; KROX20; Krox20 protein; Zinc finger protein Krox-20; AT591.