DISEASES

Disease-gene associations mined from literature

Literature associating SMPD1 and Niemann-Pick disease type A

SMPD1 [ENSP00000340409]

Sphingomyelin phosphodiesterase 1, acid lysosomal; Converts sphingomyelin to ceramide. Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol.

Synonyms:  SMPD1,  SMPD1p,  hSMPD1,  E9LUE9,  E9PL59 ...

Linkouts:  STRING  Pharos  UniProt  OMIM