Gene: [22q133/ARSA] arylsulfatase A (metachromatic leukodystrophy); metachromatic leukoencephalopathy (leukodystrophy); cerebral sclerosis, diffuse, metachromatic form (ARS-A deficiency); sulfatide lipidosis (ARS-A deficiency);
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COM |
Until 1984, all arylsulfatases had a common Enzyme Code EC:3.1.6.1. |
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FAG |
Lysosomal arylsulfatases A and B and microsomal arylsulfatase C hydrolyze the sulfoester bond in arylsulfate groups. The genes of arylsulfatase C (isoenzymes F and S) are linked with chr X (GEM:0Xp2232/ARSC1; GEM:0X^/ARSC2). On the arylsulfatase B deficiency, see GEM:05q133/ARSB. See also tandem cluster GEM:0Xp2232/ARSD, GEM:0Xp2232/ARSE, GEM:0Xp2232/ARSF." |
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REF |
PAT,PHE,FOG "Austin &: Arch Neurol, 12, 447-455, 1965 IDN,PAT,PHE "Austin JH: Neurology, 10, 470-483, 1960 PAT,PHE,FOG "Baldinger &: Clin Genet, 31, 70-76, 1987 MUT "Barth ML &: Hum Mut, 6, 170-176, 1995 PAT,PHE,FOG "Beratis &: Ann Hum Genet, 38, 485-493, 1975 MUT "Bohne W &: Hum Genet, 87, 155-158, 1991 POP "Chabas A &: Clin Genet, 44, 320-323, 1993 PAT,PHE,FOG "Chang &: Hum Genet, 61, 231-235, 1982 PAT,PHE,FOG "Cravioto &: Science, 156, 243-245, 1967 LOC,CYG "De Luca &: PNAS, 76, 1957-1961, 1979 PAT,PHE,FOG "Dubois &: AJHG, 29, 191-194, 1977 PND "Eto &: Arch Neurol, 39, 29-32, 1982 PAT,PHE,FOG "Farell DF: Hum Genet, 59, 129-134, 1981 MUT "Fluharty AL &: AJHG, 49, 1340-1350, 1991 LOC,CYG "Francke U &: CCG, 31, 58-69, 1981 REV "Gieselmann V &: Hum Mut, 4, 233-242, 1994 MUT "Gieselmann V &: AJHG, 49, 407-413, 1991 IDN,PAT,PHE "Greenfield JC: Proc Roy Soc Med, 26, 690-697, 1933 PAT,PHE,FOG "Gustavson, Hagberg: Acta Paediatr Scand, 60, 585-590, 1971 PAT,PHE,FOG "Hagberg &: Am J Dis Child, 104, 644-656, 1962 MUT "Heinisch U &: AJHG, 56, 51-57, 1995 PAT,PHE,FOG "Herska &: Am J Med Genet, 26, 629-635, 1987 PAT,PHE,FOG "Herz B, Bach: Hum Genet, 66, 147-150, 1984 PAT,PHE,FOG "Hohenschultz &: Hum Genet, 82, N1, 45-48, 1989 LOC,CYG "Hors-Cayla MC &: Hum Genet, 58, 140-143, 1981 LOC,CYG "Hors-Cayla MC &: Hum Genet, 49, 33-39, 1979 IDN,PAT,PHE "Jervis GA: J Neuropath Exp Neurol, 19, 323-341, 1960 PND "Kaback, Howell: New Engl J Med, 282, 1336-1340, 1970 MUT "Kappler J &: Hum Mut, 4, 119-127, 1994 PAT,PHE,FOG "Kihara &: Hum Genet, 74, 59-62, 1986 PAT,PHE,FOG "Kihara H: AJHG, 34, 171-181, 1982 CLO,GEN,SEQ,MUT,EXP "Kondo R &: AJHG, 48, N5, 971-978, 1991 MUT "Kreysing J &: AJHG, 53, 339-346, 1993 CLO,GEN,MOP,EXP "Kreysing J &: Eur J Biochem, 191, N3, 627-631, 1990 LOC,MUT "Narahara K &: J Med Genet, 29, 432-433, 1992 MUT "Polten A &: New Engl J Med, 324, 18-22, 1991 PAT,PHE,FOG "Propping &: Hum Genet, 74, 244-248, 1986 PND "Sanguinetti &: Clin Genet, 30, 302-308, 1986 PAT,PHE,FOG "Schaap &: AJHG, 33, 531-539, 1981 MUT "Shen N &: Am J Med Genet, 45, 631-637, 1993 CLO,SEQ,EXP "Stein C &: JBC, 264, N2, 1252-1259, 1989 PAT,PHE,FOG "Tonnesen &: Hum Genet, 67, 170-173, 1984 LOC,CYG "van Kessel &: CCG, 28, 169-172, 1980 PAT,PHE,FOG "Waheed A &: AJHG, 35, 228-233, 1983 PAT,PHE,FOG "Zlotogora, Bach: Am J Med Genet, 14, 73-80, 1983 PAT,PHE,FOG "Zlotogora &: AJHG, 32, 663-669, 1980 |
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KEY |
neu, lys, lip, mtbd |
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CLA |
coding, basic |
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LOC |
22 q13.3 |
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MIM |
MIM: 250100 |
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EZN |
ENZYME: 3.1.6.8 |
