Gene SMPD1

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Also known as



SMPD1 (sphingomyelin phosphodiesterase 1) is a gene that codes for a protein called acid sphingomyelinase (ASM). ASM is an enzyme that breaks down sphingomyelin, a type of fat (lipid) found in cell membranes. Sphingomyelin is involved in several important cellular processes, including signaling, growth, and division. Mutations in the SMPD1 gene can cause a rare inherited disorder called Niemann-Pick disease type A, which affects the metabolism of sphingomyelin and other lipids and can lead to problems with growth, development, and organ function. In addition, the SMPD1 gene has been shown to be involved in the development of certain types of cancer, such as leukemia.

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