GCSF Receptor è un gene codificato dal simbolo CSF3R. Comunemente indicato anche come: Granulocyte colony-stimulating factor receptor; G-CSF receptor; CSF3R; GCSFR. GCSF Receptor ha una massa di 92.16kDa, una lunghezza di amminoacidi di 836, ed è implicato nella malattia: Hereditary neutrophilia; Neutropenia, severe congenital 7, autosomal recessive.
Offriamo 3 GCSF Receptor ELISA kit per il rilevamento qualitativo o quantitativo di GCSF Receptor da campioni di Umano e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Receptor for granulocyte colony-stimulating factor (CSF3), essential for granulocytic maturation. Plays a crucial role in the proliferation, differientation and survival of cells along the neutrophilic lineage. In addition it may function in some adhesion or recognition events at the cell surface.
Sommario di Entrez
The protein encoded by this gene is the receptor for colony stimulating factor 3, a cytokine that controls the production, differentiation, and function of granulocytes. The encoded protein, which is a member of the family of cytokine receptors, may also function in some cell surface adhesion or recognition processes. Alternatively spliced transcript variants have been described. Mutations in this gene are a cause of Kostmann syndrome, also known as severe congenital neutropenia.
Specificità del tessuto
One or several isoforms have been found in myelogenous leukemia cell line KG-1, leukemia U-937 cell line, in bone marrow cells, placenta, and peripheral blood granulocytes. Isoform GCSFR-2 is found only in leukemia U-937 cells. Isoform GCSFR-3 is highly expressed in placenta.
Coinvolgimento nella malattia
Hereditary neutrophilia: A form of lifelong, persistent neutrophilia, a condition characterized by an increase in the number of neutrophils in the blood.
Neutropenia, severe congenital 7, autosomal recessive: A form of severe congenital neutropenia, a disorder of hematopoiesis characterized by 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.
Somiglianze di sequenza
Belongs to the type I cytokine receptor family. Type 2 subfamily.
Modifica post-translazionale
N-glycosylated.
Posizione cellulare
Secreted.
