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  • sphingolipid activator protein I deficiency
  • sphingolipidosis
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  • sphingolipid
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SAP sensory action potential; serum acid phosphatase; serum alkaline phosphatase; serum amyloid P; situs...
SAPD sphingolipid activator protein deficiency
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SAP Sphingolipid activator protein
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  • E75.3
    Sphingolipidosis, unspecified
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sphingolipid <biochemistry> Structural lipid of which the parent structure is sphingosine rather than glycerol. Synthesised in the Golgi complex.
(18 Nov 1997)
sphingolipid ceramide N-deacylase <enzyme> Hydrolyzes the n-acyl linkage between fatty acids and sphingosine bases in ceramides in various sphingolipids, as well as sphingomyelin to produce their lyso forms; mw 52 kD
Registry number: EC 3.5.1.-
Synonym: scdase
(26 Jun 1999)
sphingolipidoses Lysosomal storage diseases characterised by failure to degrade sphingolipids and resulting in their abnormal storage.
(12 Dec 1998)
sphingolipidosis Collective designation for a variety of diseases characterised by abnormal sphingolipid metabolism, e.g., gangliosidosis, Gaucher's disease, Niemann-Pick disease.
Synonym: sphingolipodystrophy.
(05 Mar 2000)
MeSH(Medical Subject Headings) ¸ÂÃã °Ë»ö (http://www.nlm.nih.gov) °á°ú : 3 ÆäÀÌÁö: 1
  • Sphingolipid Activator Proteins - »õâ A family of glycoprotein cofactors that are required for the efficient catabolization of SPHINGOLIPIDS by specific acid hydrolases such as GLUCOSYLCERAMIDASE; GALACTOCEREBROSIDASE; BETA-N-ACETYLHEXOSAMINIDASE; and CEREBROSIDE-SULFATASE.
    Synonyms : Cerebroside Sulfate Activator Protein, G(M1) Ganglioside Activating Factor, GM1 Activator Protein, Ganglioside Degradation Activator Protein, Ganglioside Hydrolysis Activator Proteins, Hexosaminidase A Activating Protein, Hexosaminidase Activating Factor
  • Sphingolipidoses - »õâ A group of inherited metabolic disorders characterized by the intralysosomal accumulation of SPHINGOLIPIDS primarily in the CENTRAL NERVOUS SYSTEM and to a variable degree in the visceral organs. They are classified by the enzyme defect in the degradation pathway and the substrate accumulation (or storage). Clinical features vary in subtypes but neurodegeneration is a common sign.
    Synonyms : Sphingolipid Storage Diseases, Sphingolipidosis, Sphingolipid Storage Disease, Storage Disease, Sphingolipid, Storage Diseases, Sphingolipid
  • Sphingolipids - »õâ A class of membrane lipids that have a polar head and two nonpolar tails. They are composed of one molecule of the long-chain amino alcohol sphingosine (4-sphingenine) or one of its derivatives, one molecule of a long-chain acid, a polar head alcohol and sometimes phosphoric acid in diester linkage at the polar head group. (Lehninger et al, Principles of Biochemistry, 2nd ed)
    Synonyms :
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sphingolipid activator protein (SAP) any of a group of non-enzymatic lysosomal proteins that stimulate the actions of specific lysosomal hydrolases by binding and solubilizing their sphingolipid substrates. SAP-1 is a glycoprotein that binds sulfatide, ganglioside GM 1 , and ceramide trihexoside, activating cerebroside sulfatase, lysosomal b-galactosidase, and a-galactosidase activities, respectively. ...
Ãâó: www.mercksource.com/pp/us/cns/cns_hl_dorlands.jspz...
sphingolipid a lipid in which the backbone is sphingosine or a related base; the basic unit is a ceramide (q.v.) which is attached via its 1-hydroxyl group to a polar head group. The sphingolipids include sphingomyelins, cerebrosides, and gangliosides.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
sphingolipid activator p. any of a group of non-enzymatic lysosomal proteins that stimulate the actions of specific lysosomal hydrolases by binding and solubilizing their sphingolipid substrates. SAP-1 is a glycoprotein that binds sulfatide, ganglioside GM1, and ceramide trihexoside, activating cerebroside sulfatase, lysosomal β-galactosidase, and α-galactosidase activities, respectively. Deficiency of SAP-1, an autosomal recessive trait, results in a disorder considered to be a form of juvenile metachromatic leukodystrophy. SAP-2 is a glycoprotein necessary for the hydrolysis of ganglioside GM2 via activation of hexosaminidases A and B; deficiency of SAP-2 results in GM2 gangliosidosis, variant AB.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
sphingolipidosis any of various lysosomal storage diseases characterized by abnormal storage of sphingolipids.
Ãâó: www.mercksource.com/pp/us/cns/cns_health_library.j...
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