Gene: [22q13/NAGA] acetylgalactosaminidase, alpha-N- (alpha-galactosidase B); Schindler neuroaxonal dystrophy (alpha-galactosidase deficiency);
|
COM |
GDB indicates the location as q13, with reference to Myszkiewicz-1984. |
|
REF |
LOC,CYG "De Groot PG &: Hum Genet, 44, 305-312, 1978 PAT,MEB,PHE "Linden &: Biol Chem Hoppe-Seyler, 370, (Jul), 661-672, 1989 LOC,CYG "Myszkiewicz &: Fed Proc, 43, 1529, 1984 IDN,PAT,PHE "Van Diggelen &: Lancet, 2, 804, 1987 LOC,CYG "Van Kessel &: CCG, 28, 169-172, 1980 LOC,CYG "Van Kessel &: CCG, 25, (HGM5), 161, 1979 |
|
KEY |
carb, lys, neu |
|
CLA |
coding, basic |
|
LOC |
22 q13 |
|
MIM |
MIM: 104170 |
|
EZN |
ENZYME: 3.2.1.49 |
