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);

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)."

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

KEY

neu, lip

CLA

coding, basic

LOC

10 q22.1

MIM

MIM: 176801

Ссылки: