Sphingomyelin phosphodiesterase
From Wikipedia, the free encyclopedia
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Acid sphingomyelinase
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| Identifiers | |
| Symbol(s) | SMPD1 |
| Entrez | 6609 |
| OMIM | 607608 |
| RefSeq | NM_000543 |
| UniProt | P17405 |
| Other data | |
| EC number | 3.1.4.12 |
| Locus | Chr. 11 p15.4-15.1 |
Sphingomyelin phosphodiesterase (or sphingomyelinase) is a phosphodiesterase enzyme which acts upon sphingomyelin.
It is classified under EC number EC 3.1.4.12.
A deficiency in this enzyme is associated with Niemann-Pick disease.
There are five forms:
- SMPD1 - acid
- SMPD2 - neutral
- SMPD3 - neutral
- SMPDL3A - acid-like
- SMPDL3B - acid-like
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