SMPDL3B
Description
The SMPDL3B (sphingomyelin phosphodiesterase acid like 3B) is a protein-coding gene located on chromosome 1.
SMPDL3B is a lipid-modulating phosphodiesterase that acts on the surface of macrophages and dendritic cells, significantly impacting their lipid composition and membrane fluidity. It functions as a negative regulator of Toll-like receptor signaling. While possessing in vitro phosphodiesterase activity, its precise physiological substrate remains unidentified. Notably, SMPDL3B lacks activity against phosphocholine-containing lipids, but demonstrates the capability to cleave CDP-choline and release phosphate from ATP and ADP in vitro.
SMPDL3B is also known as ASML3B.
Associated Diseases
- Moyamoya disease
- isolated agammaglobulinemia
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- combined immunodeficiency due to moesin deficiency
- agammaglobulinemia 7, autosomal recessive
- neutropenia, severe congenital, 1, autosomal dominant
- immunodeficiency 69
