Gene: [05q3/GM2A] ganglioside GM2 activator protein; sphingolipid activator protein 3; GM2-gangliosidosis; Tay-Sachs disease, type AB; [SAP3 ]

REL	GEM:03q2/GM2AP.
REF	LOC,MAP "Burg &: Ann Hum Genet, 49, N1, 41-45, 1985 PHE,PAT "Conzelmann, Sandhoff: PNAS, 75, 3979-3983, 1978 PHE,PAT "Hechtman &: Pediatr Res, 16, 217-222, 1982 PHE,PAT "Li &: AJHG, 35, 520-522, 1983a PHE,PAT "Li &: AJHG, 35, 629-634, 1983b PHE,PAT "Li &: BBRC, 101, 479-485, 1981 HIS "O'Neill &: Neurology, 28, 1117-1123, 1978 HIS "Sandhoff &: J Neurochem, 18, 2469-2489, 1971
SWI	SWISSPROT: P17900
KEY	neu, lip, mtbd
CLA	coding, basic
LOC	05 q32-33
MIM	MIM: 272750
SYN	SAP3

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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