| Symbol
| SMPD3
| contributors: mct/npt - updated : 06-05-2019
|
| HGNC name
| sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
|
| HGNC id
| 14240
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
|
| loss of function
| |
responsible for developmental defects of bone (Kim 2008) | | tumoral
| somatic mutation
|
|
|
| |
implicate the ceramide pathway in human leukemias (Kim 2008) | | constitutional
|
|
| --over
|
| |
may increase cellular ceramide levels, leading to enhanced cell death and arrested cell proliferation (Zhu 2010) | | constitutional
|
|
|
| loss of function
|
perturbs neuronal proteostasis and causes progressive cognitive impairment  | | tumoral
|
|
|
| loss of function
| |
plays a role in the survival or proliferation ofiver cancer stem-like cells (CSCs), leading to spontaneous tumors, which is associated with tumor-specific effects on lipid homeostasis | | constitutional
|
|
|
| gain of function
| |
is required for the development of infection-induced diaphragm calpain activation and muscle weakness | |
Variant & Polymorphism
| 
| |
| Candidate gene
| SMPD3 deficiency is the pathogenetic basis of a novel form of chondrodysplasia |
Marker
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| immunology | infectious | | |
| therapies that inhibit SMPD3 in patients may prevent infection-induced skeletal muscle dysfunction |
| | |
|
| Smpd3 deficiency in the neutral sphingomyelinase (Smpd3-/-) mouse results in a novel form of juvenile dwarfism |