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:

  • ARSB Ген (ген арилсульфатазы B, MPS VI)