Sterile Alpha Motif Domain Containing Protein 8 (SaMD8)

By searching databases for sequences encoding motifs characteristic of SM synthases, Huitema et al. (2004) identified SAMD8, which they called SMSR. The deduced 415-amino acid protein contains 5 membrane-spanning alpha helices connected by hydrophilic extramembrane loops. SMSR also contains 4 highly conserved motifs, designated D1 to D4.Hartz (2007) mapped the SAMD8 gene to chromosome 10q22.2 based on an alignment of the SAMD8 sequence with the genomic sequence (build 36.1).

SGMS1 mutants were resistant to CDT, a phenotype reverted by complementing the mutant cells with SGMS1 wildtype cDNAs. The SGMS1 mutation reduced levels of sphingomyelin, a key component of lipid rafts.