Reactome | SMPD1 hydrolyzes SPHM

SMPD1 hydrolyzes SPHM

Stable Identifier

R-HSA-1605797

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

ReviewStatus

5/5

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Sphingomyelin phosphodiesterase (SMPD1), also called acid sphingomyelinase (ASM), is a lysosomal phosphodiesterase that hydrolyses sphingomyelin to ceramide and phosphocholine (Schuchman et al. 1991, Schuchman et al. 1992). Defects in SMPD1 are the cause of two types of Niemann-Pick disease. Type A (NPDA, Niemann-Pick disease classical infantile form) (MIM:257200) (Ferlinz et al. 1991) and type B (NPDB, Niemann-Pick disease visceral form) (MIM:607616) (Rodriguez-Pascau et al. 2009).

Literature References

PubMed ID	Title	Journal	Year
19405096	Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients Chabás, A, Gort, L, Vilageliu, L, Grinberg, D, Schuchman, EH, Rodríguez-Pascau, L	Hum Mutat	2009
1718266	Molecular basis of acid sphingomyelinase deficiency in a patient with Niemann-Pick disease type A Ferlinz, K, Hurwitz, R, Sandhoff, K	Biochem Biophys Res Commun	1991
1840600	Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs Takahashi, T, Suchi, M, Desnick, RJ, Schuchman, EH, Sandhoff, K	J Biol Chem	1991
1740330	Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) Levran, O, Desnick, RJ, Pereira, LV, Schuchman, EH	Genomics	1992