CD300A
Description
The CD300A (CD300a molecule) is a protein-coding gene located on chromosome 17.
CD300A (Cluster of Differentiation 300A) is a human gene. The CMRF35 antigen (CMRF35A; MIM 606786), identified by reactivity with a monoclonal antibody, is present on monocytes, neutrophils, and some T and B lymphocytes. CMRF35H is recognized by the same antibody and is distinct from CMRF35.
CD300A acts as an inhibitory receptor, potentially reducing the killing activity of natural killer (NK) cells and suppressing mast cell degranulation. It also negatively regulates the Toll-like receptor (TLR) signaling pathway activated by MYD88, but not TRIF, through the activation of PTPN6.
CD300A is also known as CLM-8, CMRF-35-H9, CMRF-35H, CMRF35-H, CMRF35-H9, CMRF35H, CMRF35H9, IGSF12, IRC1, IRC1/IRC2, IRC2, IRp60.
Associated Diseases
- neutropenia, severe congenital, 1, autosomal dominant
- retinitis pigmentosa and erythrocytic microcytosis
- X-linked retinoschisis
- DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
- thrombocytopenia 4
- platelet-type bleeding disorder 15
- bleeding disorder, platelet-type, 24
- thrombocytopenia 2
- X-linked sideroblastic anemia 1
