SAMD8
Description
The SAMD8 (sterile alpha motif domain containing 8) is a protein-coding gene located on chromosome 10.
SAMD8, also known as SMSr, is a protein located in the endoplasmic reticulum (ER). While it lacks sphingomyelin synthase activity, it can convert phosphatidylethanolamine (PE) and ceramide into ceramide phosphoethanolamine (CPE) with low efficiency. However, its primary role appears to be as a ceramide sensor, regulating ceramide levels within the ER rather than directly converting ceramides. SAMD8 is essential for the proper function of the early secretory pathway.
SAMD8 is also known as HEL-177, SMSr.
Associated Diseases
- isolated asymptomatic elevation of creatine phosphokinase
- liver and intrahepatic bile duct neoplasm
- type 2 diabetes mellitus
