Aliases for SAMD8 Gene
External Ids for SAMD8 Gene
Previous GeneCards Identifiers for SAMD8 Gene
GeneCards Summary for SAMD8 Gene
SAMD8 (Sterile Alpha Motif Domain Containing 8) is a Protein Coding gene. Diseases associated with SAMD8 include Hereditary Sensory And Autonomic Neuropathy Type 1. Among its related pathways are sphingomyelin metabolism/ceramide salvage. Gene Ontology (GO) annotations related to this gene include transferase activity. An important paralog of this gene is SGMS1.
UniProtKB/Swiss-Prot Summary for SAMD8 Gene
Sphingomyelin synthases synthesize sphingolipids through transfer of a phosphatidyl head group on to the primary hydroxyl of ceramide. SAMD8 is an endoplasmic reticulum (ER) transferase that has no sphingomyelin synthase activity but can convert phosphatidylethanolamine (PE) and ceramide to ceramide phosphoethanolamine (CPE) albeit with low product yield. Appears to operate as a ceramide sensor to control ceramide homeostasis in the endoplasmic reticulum rather than a converter of ceramides. Seems to be critical for the integrity of the early secretory pathway.