CSF2RA/CD116 Antibody – Rabbit Polyclonal

The protein encoded by this gene is the alpha subunit of the heterodimeric receptor for colony stimulating factor 2, a cytokine which controls the production, differentiation, and function of granulocytes and macrophages. The encoded protein is a member of the cytokine family of receptors. This gene is found in the pseudoautosomal region (PAR) of the X and Y chromosomes. Multiple transcript variants encoding different isoforms have been found for this gene, with some of the isoforms being membrane-bound and others being soluble. [provided by RefSeq, Jul 2008]

CSF2RA: Low affinity receptor for granulocyte-macrophage colony- stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells. Defects in CSF2RA are the cause of pulmonary surfactant metabolism dysfunction type 4 (SMDP4). A rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress. Belongs to the type I cytokine receptor family. Type 5 subfamily. 8 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, integral; Receptor, cytokine

Chromosomal Location of Human Ortholog: Xp22.32 and Yp11.3

Cellular Component: extracellular region; integral to plasma membrane; intracellular; plasma membrane

Molecular Function: granulocyte colony-stimulating factor binding; granulocyte colony-stimulating factor receptor activity; protein binding; protein-tyrosine kinase activity; Ras guanyl-nucleotide exchange factor activity; receptor activity

Biological Process: cellular protein metabolic process; MAPKKK cascade; peptidyl-tyrosine phosphorylation; positive regulation of GTPase activity

Disease: Surfactant Metabolism Dysfunction, Pulmonary, 4