SMPDL3A
Description
The SMPDL3A (sphingomyelin phosphodiesterase acid like 3A) is a protein-coding gene located on chromosome 6.
SMPDL3A acts as a negative regulator of innate immunity by breaking down 2',3'-cGAMP, a molecule that activates the cGAS-STING signaling pathway. It specifically converts 2',3'-cGAMP into 2'5'-bond pGpA and then further breaks down pGpA to produce GpA. SMPDL3A also has enzymatic activity with various nucleotides, including nucleoside triphosphates like ATP, p-nitrophenyl-TMP, and CDP-choline. It exhibits lower activity with nucleoside diphosphates but no activity with nucleoside monophosphates. It can also break down CDP-ethanolamine. Importantly, SMPDL3A lacks sphingomyelin phosphodiesterase activity.
SMPDL3A is also known as ASM3A, ASML3a, yR36GH4.1.
Associated Diseases
- familial atrial fibrillation
- Brugada syndrome
- familial sick sinus syndrome
- hypertrophic cardiomyopathy 6
- long QT syndrome 9
- long QT syndrome 15
- sick sinus syndrome 1
- long QT syndrome 5
- Brugada syndrome 3
- sinoatrial node dysfunction and deafness
