DISEASES

Disease-gene associations mined from literature

Literature associating SMPD1 and neuronal ceroid lipofuscinosis

SMPD1 [ENSP00000340409]

Sphingomyelin phosphodiesterase; Converts sphingomyelin to ceramide (PubMed:1840600, PubMed:18815062, PubMed:27659707, PubMed:25920558). Also has phospholipase C activities toward 1,2-diacylglycerolphosphocholine and 1,2-diacylglycerolphosphoglycerol. ECO:0000269|PubMed:18815062, ECO:0000269|PubMed:25920558, Isoform 3 lacks residues that bind the cofactor Zn(2+) and has no enzyme activity; Belongs to the acid sphingomyelinase family.

Synonyms:  SMPD1,  SMPD1p,  hSMPD1,  E9PL59,  E9PPK6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM