Ad
related to: smpd1 gene
Search results
Results from the WOW.Com Content Network
Sphingomyelin phosphodiesterase 1 (SMPD1), also known as acid sphingomyelinase (ASM), is an enzyme that in humans is encoded by the SMPD1 gene. Sphingomyelin phosphodiesterase 1 belongs to the sphingomyelin phosphodiesterase family.
Mutations in the SMPD1 gene cause Niemann–Pick types A and B. This gene carries instructions for cells to produce a lysosomal enzyme called acid sphingomyelinase. Insufficient activity of the enzyme acid sphingomyelinase causes the buildup of toxic amounts of sphingomyelin, a fatty substance present in every cell of the body.
Niemann–Pick disease has an autosomal recessive pattern of inheritance. Mutations in the SMPD1 gene cause Niemann–Pick disease types A and B. They produce a deficiency in the activity of the lysosomal enzyme acid sphingomyelinase, that breaks down the lipid sphingomyelin.
Sphingomyelin phosphodiesterase 1 (SMPD1) is the gene that codes for two aSMase enzymes distinct in the pools of sphingomyelin they hydrolyse. [4] Lysosomal sphingomyelinase (L-SMase) is found in the lysosomal compartment, and the secretory sphingomyelinase (S-SMase) is found extracellularly.
Additionally, ceramide has been seen to be in higher percentages in patients with dementia as compared to healthy controls likely due to mutations in the SMPD1 gene. This gene encodes for sphingomyelinase, an enzyme that hydrolyzes sphingolipids into ceramide and is also implicated in the regulation of α-synuclein.
Sphingolipidoses are a class of lipid storage disorders or degenerative storage disorders caused by deficiency of an enzyme that is required for the catabolism of lipids that contain ceramide, [1] also relating to sphingolipid metabolism.
The disease is caused by a defect in the housekeeping gene for lysosomal glucocerebrosidase (also known as beta-glucosidase, EC 3.2.1.45 ) on the first chromosome (1q22). The enzyme is a 55.6- kilodalton , 497- amino acid -long protein that catalyses the breakdown of glucocerebroside, a cell membrane constituent of red and white blood cells .
From Wikipedia, the free encyclopedia. Redirect page
Ad
related to: smpd1 gene