spp-10 encodes two protein isoforms that are orthologous to the human gene PROSAPOSIN (PSAP; OMIM:176801, mutated in Gaucher disease and metachromatic leukodystrophy); SPP-10A and -10B are predicted to have 3 and 4 embedded saposin sequences, that are likely to be split into individual saposin peptides by proteolysis; in mammals, saposins activate the enzymes sphingomyelinphosphodiesterase and beta-glucosylceramidase; spp-10 has no obvious function in mass RNAi assays.
Predicted to be involved in sphingolipid metabolic process. Predicted to be located in lysosome. Human ortholog(s) of this gene implicated in several diseases, including cystic fibrosis; lung disease (multiple); and sphingolipidosis (multiple). Is an ortholog of human PSAP (prosaposin) and PSAPL1 (prosaposin like 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.