DISEASES

Disease-gene associations mined from literature

Literature associating SMPD4 and Coffin-Siris syndrome

SMPD4 [ENSP00000386531]

Sphingomyelin phosphodiesterase 4; Catalyzes the hydrolysis of membrane sphingomyelin to form phosphorylcholine and ceramide . May sensitize cells to DNA damage-induced apoptosis .

Synonyms:  SMPD4,  SMPD4p,  hSMPD4,  C9J647,  F2Z2I0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM