ID | ENZYME | GENE | EC NUMBER | FAMILY | CYTOGENETICS | DISEASE | REFERENCE | ORGAN |
---|---|---|---|---|---|---|---|---|
1063 | Sphingomyelin phosphodiesterase | SMPD1 | 3.1.4.12 | Acid sphingomyelise | 11-p15.4 | Niemann-Pick Disease, Type a | 18815062, 12631268, 18088425 | Eye,Liver,Lungs,Muscle,Spleen,Boness,Skin,Nervous System |