Search results for SMPD1

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Species

Types

Compartments

Search properties

Protein (1 results from a total of 1)

Identifier: R-HSA-1605710
Species: Homo sapiens
Compartment: lysosomal lumen
Primary external reference: UniProt: SMPD1: P17405

Reaction (1 results from a total of 1)

Identifier: R-HSA-1605797
Species: Homo sapiens
Compartment: lysosomal lumen
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).
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