SMPD1 - Sphingomyelin phosphodiesterase - human protein (Medical)
 
Home Recent activites arrow-down favorite My favorites arrow-down favorite My labels arrow-down Downloads
Back to ...  
Publication View
Protein
Gene
References

 
SMPD1 »  Sphingomyelin phosphodiesterase   [ EC 3.1.4.12 ]
 
Protein also known as:  Acid sphingomyelinase (aSMase).
Gene name:  SMPD1
Family name: Acid sphingomyelinase
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 49 4
GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Niemann-Pick disease A (NPDA) [MIM:257200]: An early-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Niemann-Pick disease type A is a primarily neurodegenerative disorder characterized by onset within the first year of life, mental retardation, digestive disorders, failure to thrive, major hepatosplenomegaly, and severe neurologic symptoms. The severe neurological disorders and pulmonary infections lead to an early death, often around the age of four. Clinical features are variable. A phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. The disease is caused by mutations affecting the gene represented in this entry.  
12
  • CuratedUniProtKB
Niemann-Pick disease B (NPDB) [MIM:607616]: A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood. The disease is caused by mutations affecting the gene represented in this entry.  
14
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Niemann-Pick disease type A  77292  
Niemann-Pick disease type B  77293  
Polymorphism 
A common polymorphism arises from a variable number of hexanucleotide repeat sequence within the signal peptide region.  
  • CuratedUniProtKB
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drug:
Desipramine  DB01151  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Neurodegeneration  definition   [KW-0523]
Niemann-Pick disease  definition   [KW-1054]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 6609
GeneReviews: SMPD1
MIM: 607616
MIM: 257200
PharmGKB: PA35969
Polymorphism databases
DMDM: 224471897
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.