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 |
