colony stimulating factor 2 receptor subunit alpha
The information on this page was automatically extracted from online scientific databases.
From NCBI Gene:
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]
Low affinity receptor for granulocyte-macrophage colony-stimulating factor. Transduces a signal that results in the proliferation, differentiation, and functional activation of hematopoietic cells.
Covered on Genetics Home Reference:
From NCBI Gene:
- Surfactant metabolism dysfunction, pulmonary, 4
Pulmonary surfactant metabolism dysfunction 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. [MIM:300770]
Molecular Location: base pairs 1,268,800 to 1,325,097 on chromosomes X and Y (Homo sapiens Updated Annotation Release 109.20200228, GRCh38.p13) (NCBI)