Reactome | SMPD1 hydrolyzes SPHM

SMPD1 hydrolyzes SPHM

Stable Identifier

R-HSA-1605797

Type

Reaction [transition]

Species

Homo sapiens

Compartment

lysosomal lumen

ReviewStatus

5/5

Locations in the PathwayBrowser

Expand all

General

SBML | | PDF

SVG | | PPTX | SBGN

Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout

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 Rodríguez-Pascau, L, Gort, L, Schuchman, EH, Vilageliu, L, Grinberg, D, Chabás, A	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 Schuchman, EH, Suchi, M, Takahashi, T, Sandhoff, K, Desnick, RJ	J Biol Chem	1991
1740330	Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1) Schuchman, EH, Levran, O, Pereira, LV, Desnick, RJ	Genomics	1992