Literature associating SMPD2 and Niemann-Pick disease
SMPD2 [ENSP00000258052]
Sphingomyelin phosphodiesterase 2; Converts sphingomyelin to ceramide. Hydrolyze 1-acyl-2-lyso- sn-glycero-3-phosphocholine (lyso-PC) and 1-O-alkyl-2-lyso-sn-glycero- 3-phosphocholine (lyso-platelet-activating factor). The physiological substrate seems to be Lyso-PAF; Belongs to the neutral sphingomyelinase family.
Synonyms: SMPD2, SMPD2p, hSMPD2, H0Y5N2, O60906 ...