asm-2 encodes a protein similar to human acid sphingomyelinase (ASM) or sphingomyelin phosphodiesterase 1; the ASM-2 protein has a putative secretory signal peptide at the N-terminus, saposin-like and proline-rich domains and putative N-linked glycosylation sites; asm-2 shows phosphodiesterase activity when expressed in COS-7 cells; like mammalian ASM, asm-2 is probably both intracellular and secreted; northern blot analysis indicates that asm-2 is expressed during post-embryonic development as compared to asm-1 which is expressed at higher levels in the embryo; human ASM is implicated in Niemann-Pick disease type B (OMIM:607608).
Enables sphingomyelin phosphodiesterase activity. Involved in ceramide biosynthetic process and sphingomyelin catabolic process. Located in extracellular region. Human ortholog(s) of this gene implicated in Niemann-Pick disease type A and Niemann-Pick disease type B. Is an ortholog of human SMPD1 (sphingomyelin phosphodiesterase 1).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.