Sphingomyelin phosphodiesterase 1
Encyclopedia
Sphingomyelin phosphodiesterase 1 also known as acid sphingomyelinase is an enzyme
that in humans is encoded by the SMPD1 gene
.
Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase
family. Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated
.
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
that in humans is encoded by the SMPD1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase
Sphingomyelin phosphodiesterase
Sphingomyelin phosphodiesterase or simply Sphingomyelinase is a hydrolase enzyme that is involved in sphingolipid metabolism reactions. SMase is a member of the DNase I superfamily of enzymes and is responsible for breaking sphingomyelin down into phosphocholine and ceramide...
family. Defects in SMPD1 gene cause Niemann-Pick disease, SMPD1-associated
Niemann-Pick disease, SMPD1-associated
Niemann-Pick disease, SMPD1-associated refers to two different types of Niemann-Pick disease which are associated with the SMPD1 gene.There are approximately 1,200 cases of NPA and NPB worldwide with the majority of cases being Type B or an intermediate form....
.