Protein Name | sphingomyelin phosphodiesterase 1, acid lysosomal |
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Organism | Mus musculus |
Gene ID | 20597 |
Gene Symbol | Smpd1 |
UniProt | Q04519 (ASM_MOUSE) |
Relationships |
Total Number of functionally related compound(s) :
156
Total Number of Articles : 209 |
Description |
sphingomyelin phosphodiesterase 1, acid lysosomal |
Gene Summary |
Enables acid sphingomyelin phosphodiesterase activity and zinc ion binding activity. Involved in ceramide biosynthetic process; positive regulation of apoptotic process; and response to ionizing radiation. Acts upstream of or within ceramide metabolic process; cholesterol metabolic process; and sphingomyelin catabolic process. Located in extracellular space. Is expressed in several structures, including alimentary system; integumental system; nervous system; sensory organ; and skeleton. Used to study Niemann-Pick disease. Human ortholog(s) of this gene implicated in Niemann-Pick disease; Niemann-Pick disease type A; and Niemann-Pick disease type B. Orthologous to human SMPD1 (sphingomyelin phosphodiesterase 1). [provided by Alliance of Genome Resources, Apr 2022] |
synonyms |
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Properties | |