功能： alternative products:Additional isoforms seem to exist,disease:Defects in PSAP are the cause of combined saposin deficiency (CSAPD) [MIM:611721]; also known as prosaposin deficiency. CSAPD is due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement.,disease:Defects in PSAP saposin-A region are the cause of atypical Krabbe disease (AKRD) [MIM:611722]. AKRD is a disorder of galactosylceramide metabolism. AKRD features include progressive encephalopathy and abnormal myelination in the cerebral white matter resembling Krabbe disease.,disease:Defects in PSAP saposin-B region are the cause of a variant of metachromatic leukodystrophy (MLD) [MIM:249900].,disease:Defects in PSAP saposin-C region are the cause of atypical Gaucher disease (AGD) [MIM:610539]. Affected individuals have marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease, a lysosomal storage disorder.,disease:Defects in PSAP saposin-D region are the cause of a variant of Tay-Sachs disease (GM2-gangliosidosis).,function:Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate.,function:Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases.,function:Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12).,function:The lysosomal degradation of sphingolipids takes place by the sequential action of specific hydrolases. Some of these enzymes require specific low-molecular mass, non-enzymic proteins: the sphingolipids activator proteins (coproteins).,miscellaneous:Saposin-B co-purifies with 1 molecule of phosphatidylethanolamine.,PTM:N-linked glycans show a high degree of microheterogeneity.,PTM:The one residue extended Saposin-B-Val is only found in 5% of the chains.,PTM:This precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins.,similarity:Contains 2 saposin A-type domains.,similarity:Contains 4 saposin B-type domains.,subunit:Saposin-B is a homodimer.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome .; [Prosaposin]: Secreted . Secreted as a fully glycosylated 70 kDa protein composed of complex glycans. .
功能： alternative products:Additional isoforms seem to exist,disease:Defects in PSAP are the cause of combined saposin deficiency (CSAPD) [MIM:611721]; also known as prosaposin deficiency. CSAPD is due to absence of all saposins, leading to a fatal storage disorder with hepatosplenomegaly and severe neurological involvement.,disease:Defects in PSAP saposin-A region are the cause of atypical Krabbe disease (AKRD) [MIM:611722]. AKRD is a disorder of galactosylceramide metabolism. AKRD features include progressive encephalopathy and abnormal myelination in the cerebral white matter resembling Krabbe disease.,disease:Defects in PSAP saposin-B region are the cause of a variant of metachromatic leukodystrophy (MLD) [MIM:249900].,disease:Defects in PSAP saposin-C region are the cause of atypical Gaucher disease (AGD) [MIM:610539]. Affected individuals have marked glucosylceramide accumulation in the spleen without having a deficiency of glucosylceramide-beta glucosidase characteristic of classic Gaucher disease, a lysosomal storage disorder.,disease:Defects in PSAP saposin-D region are the cause of a variant of Tay-Sachs disease (GM2-gangliosidosis).,function:Saposin-A and saposin-C stimulate the hydrolysis of glucosylceramide by beta-glucosylceramidase (EC 3.2.1.45) and galactosylceramide by beta-galactosylceramidase (EC 3.2.1.46). Saposin-C apparently acts by combining with the enzyme and acidic lipid to form an activated complex, rather than by solubilizing the substrate.,function:Saposin-B stimulates the hydrolysis of galacto-cerebroside sulfate by arylsulfatase A (EC 3.1.6.8), GM1 gangliosides by beta-galactosidase (EC 3.2.1.23) and globotriaosylceramide by alpha-galactosidase A (EC 3.2.1.22). Saposin-B forms a solubilizing complex with the substrates of the sphingolipid hydrolases.,function:Saposin-D is a specific sphingomyelin phosphodiesterase activator (EC 3.1.4.12).,function:The lysosomal degradation of sphingolipids takes place by the sequential action of specific hydrolases. Some of these enzymes require specific low-molecular mass, non-enzymic proteins: the sphingolipids activator proteins (coproteins).,miscellaneous:Saposin-B co-purifies with 1 molecule of phosphatidylethanolamine.,PTM:N-linked glycans show a high degree of microheterogeneity.,PTM:The one residue extended Saposin-B-Val is only found in 5% of the chains.,PTM:This precursor is proteolytically processed to 4 small peptides, which are similar to each other and are sphingolipid hydrolase activator proteins.,similarity:Contains 2 saposin A-type domains.,similarity:Contains 4 saposin B-type domains.,subunit:Saposin-B is a homodimer.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Lysosome .; [Prosaposin]: Secreted . Secreted as a fully glycosylated 70 kDa protein composed of complex glycans. .
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