DISEASES

Disease-gene associations mined from literature

Literature associating SMPD2 and lipid storage disease

SMPD2 [ENSP00000258052]

Sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase); 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,  O60906,  O60906p ...

Linkouts:  STRING  Pharos  UniProt  OMIM