Gene: [05q133/ARSB] arylsulfatase B (N-acetylgalactosamine 4-sulfatase); mucopolysaccharidosis VI (Maroteaux-Lamy syndrome);
COM | [1] As a
result of early cytogenetic studies, the ARSB location was limited by
region p11-q13, as Genome Data Base indicates. A refined location
(hybridization in situ on Chrs and Chr 5 translocation analysis,
Litjens-1989) is 5q13.3. [2] Until 1984, all arylsulfatases had a common Enzyme Code EC:3.1.6.1." |
FUN | [1] Systematic name:
N-acetyl-D-galactosamine-4-sulfate 4-sulfohydrolase. [2] The enzyme catalyzes hydrolysis of 4-sulfate groups of the N-acetyl-D-galactosamine 4-sulfate units of chondroitin sulfate and dermatan sulfate. It also affects N-acetylglucosamine 4-sulfate." |
FAG | See GEM:22q133/ARSA. |
PAT | The mucopolysaccharidosis VI (Maroteaux-Lamy; due to arylsulfatase B deficiency) features are bone and cornea alterations without intellectual impairment. Growth retardation is manifested at 2-3 years, then corneal clouding, dull of hearing, mild anchylosis, hepatosplenomegaly, rugged face features, cardiovascular and respiratory deficiency are observed. The severe form leads to death in teens as a rule." |
FOG | The inheritance mode: autosomal recessive. |
REF | PHE,FOG,PAT "Black &:
Am J Med Genet, 25, 273-279, 1986 TER "Crawley AC &: J Clin Invest, 97, 1864-1873, 1996 LOC,CYG "DeLuca C &: PNAS, 76, N1, 1957-1961, 1979 LOC,CYG "Dudin G &: Clin Genet, 25, 455-458, 1984 LOC,CYG "Fidzianska E &: (in) Proc 7th Int Cong Hum Genet, Berlin, pp. 611-612, 1986 LOC,CYG "Fidzianska E &: CCG, 38, N2, 150-151, 1984a LOC,FAG "Fidzianska E: Genet Polon, 25, N4, 451-458, 1984b LOC,CYG "Fox MF &: CCG, 38, 45-49, 1984 PEP,SEQ,STR,FUN "Gibson &: Biochem J, 248, 755-764, 1987 LOC,CYG "Hellkuhl B, Grzeschik: CCG, 22, (HGM4), 203-206, 1978 MUT "Isbrandt D &: Hum Mut, 7, 361-363, 1996 MUT "Jin W-D &: AJHG, 50, 795-800, 1992 TER "Krivit &: New Engl J Med, 311, 1606-1611, 1984 PHE,FOG,PAT "Levy &: Am J Clin Path, 73, 416-422, 1980 MUT "Litjens T &: AJHG, 58, 1127-1134, 1996 MUT "Litjens T &: Hum Mut, 1, 397-402, 1992 PRO,LOC,CYG "Litjens T &: Hum Genet, 82, 67-68, 1989 PHE,FOG,PAT "Maroteaux, Lamy: J Pediatr, 67, 312-323, 1965 PHE,FOG,PAT "Maroteaux &: Presse Med, 71, 1849-1852, 1963 PND,MGC "Sanguinetti &: Clin Genet, 30, 302-308, 1986 SEQ,EXP,FAG "Schuchman EH &: Genomics, 6, N1, 149-158, 1990 PHE,FOG,PAT "Spranger &: Helv Paediat Acta, 25, 337-362, 1986 PND,MGC "van Dyke &: Am J Med Genet, 8, 235-242, 1981 PEP,SEQ,STR,FUN "Weller, Austen: J Clin Invest, 71, 114-123, 1983 MUT "Wicker G &: JBC, 266, 21386-21391, 1991 |
SWI | SWISSPROT: P15848 |
KEY | mtbd, carb, lys, bone, hem |
CLA | coding, basic |
LOC | 05 q13.3 |
MIM | MIM: 253200 |
EZN | ENZYME: 3.1.6.12 |
Смотрите также:
