The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Detects a band of approximately 49 kDa (predicted molecular weight: 45 kDa).
FunctionTranscription factor regulating the expression of genes active during S-phase of the cell cycle in hematopoietic cells. Represses ELA2 transcription.
Involvement in diseaseDefects in GFI1 are a cause of neutropenia severe congenital autosomal dominant type 2 (SCN2) [MIM:613107]. SCN2 is a disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections. Defects in GFI1 are a cause of dominant nonimmune chronic idiopathic neutropenia of adults (NI-CINA) [MIM:607847]. NI-CINA is a relatively mild form of neutropenia diagnosed in adults, but predisposing to leukemia in a subset of patients.
Moignard V et al. Characterization of transcriptional networks in blood stem and progenitor cells using high-throughput single-cell gene expression analysis. Nat Cell Biol15:363-72 (2013).
Read more (PubMed: 23524953) »
Khandanpour C et al. The human GFI136N variant induces epigenetic changes at the Hoxa9 locus and accelerates K-RAS driven myeloproliferative disorder in mice. Blood120:4006-17 (2012).
Read more (PubMed: 22932805) »