DISEASES

Disease-gene associations mined from literature

Literature on SMPDL3A

SMPDL3A [ENSP00000357425]

Acid sphingomyelinase-like phosphodiesterase 3a; Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:25288789, PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP . Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates (PubMed:25288789, PubMed:26783088). Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine . Does not have sphingomyelin phosphodiesterase activity . ; Belongs to the acid sphingomyelinase family.

Synonyms:  SMPDL3A,  SMPDL3Ap,  hSMPDL3A,  Q92484,  Q92484p ...

Linkouts:  STRING  Pharos  UniProt  OMIM