Gene: [10q221/PSAP] prosaposin (saposin A, saposin B, saposin C, saposin D); sphingolipid activator protein 1 (SAP1; saposin B); sphingolipid activator protein 2 (SAP2; saposin C); metachromatic leukodystrophy (deficiency of SAP1 (saposin B); MIM:249900); Gaucher disease, atypical (deficiency of SAP2 (saposin C)); combined SAP deficiency (deficiency of SAP1 and SAP2);
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MOP |
Prosaposin is a precursor for 4 saposins: A, B, C, and D. |
|
FAG |
A gene for another protein activator of sphingolipid hydrolysis is mapped in Chr 5q3 (GEM:05q3/GM2A)." |
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REF |
LOC "Bar-Am I &: CCG, 72, 316-318, 1996 FUN,MEB,PAT "Christomanou H: Hoppe-Seyler's Z Phys Chem, 361, 1489-1502, 1980 CLO,SEQ "Dewji NN &: PNAS, 84, N23, 8652-8656, 1987 LOC,CYG "Fujibayashi &: AJHG, 37, 741-748, 1985a FUN,MEB,PAT "Fujibayashi, Wenger: Clin Chim Acta, 146, 147-156, 1985b MUT,PAT "Henseler M &: AJHG, 58, 65-74, 1996 MOP,MUT,PAT "Holtschmidt H &: JBC, 266, 7556-7560, 1991 LOC "Inui K &: Hum Genet, 69, 197-200, 1985 FUN,MEB,PAT "Poulos &: BBA, 793, 141-148, 1984 SEQ,STR,EVO "Rorman EG &: Genomics, 13, 312-318, 1992 MUT,PAT "Schnabel D &: JBC, 267, 3312-3315, 1992 MUT,PAT "Schnabel D &: FEBS Lett, 284, 57-59, 1991 FUN,MEB,PAT "Wenger &: BBA, 712, 639-649, 1982 MUT,PAT "Zhang XL &: Hum Genet, 87, 211-215, 1991 |
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KEY |
neu, lip |
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CLA |
coding, basic |
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LOC |
10 q22.1 |
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MIM |
MIM: 176801 |
