GCSF Receptor est un gène codé par le symbole CSF3R. Communément appelé aussi: Granulocyte colony-stimulating factor receptor; G-CSF receptor; CSF3R; GCSFR. GCSF Receptor a une masse de 92.16kDa, une longueur d'acide aminé de 836, et est impliqué dans les maladies: Hereditary neutrophilia; Neutropenia, severe congenital 7, autosomal recessive.
Nous proposons 3 GCSF Receptor kits ELISA pour la détection qualitative ou quantitative de GCSF Receptor à partir d'échantillons Humain et Rat.
Informations sur les Gènes et les Protéines
Résumé 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.
Résumé 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.
Spécificité tissulaire
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.
Implication dans la maladie
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.
Similitudes de séquence
Belongs to the type I cytokine receptor family. Type 2 subfamily.
Modification post-traductionnelle
N-glycosylated.
Localisation cellulaire
Secreted.
