Gene: [17q253/SGSH] N-sulfoglucosamine sulfohydrolase (sulfamidase); sulphamidase, heparan sulfate sulfatase; mucopolysaccharidosis type IIIA (heparan sulfate sulfatase deficiency); SanFilippo syndrome A (heparan sulfate sulfatase deficiency);


CAG

[1] Four enzymatically distinct forms of mucopolysaccharidosis type III (SanFilippo syndrome) are now recognized: A - due to heparan sulfate sulfatase deficiency (this locus), B - due to alpha-N-acetylglucosaminidase deficiency (GEM:17q21/NAGLU), C - due to alpha-glucosaminide N-acetyltransferase deficiency (GEM:00.0/AGNAT), D - due to N-acetylglucosamine-6-sulfatase deficiency (GEM:12q14/GNS).
[2] About mucopolysaccharidosis type I (due to alpha-L-iduronidase deficiency) see GEM:04p163/IDUA."

REF

PAT "Lindor NM &: Am J Med Genet, 53, 241-244, 1994
PAT,FAG "McDowell GA &: Am J Med Genet, 47, 1092-1095, 1993
CLO,SEQ,LOC,MUT "Scott HS &: Nature Genet, 11, 465-467, 1995

KEY

lys, mtbd, neu

CLA

coding, basic

LOC

17 q25.3

MIM

MIM: 252900

EZN

ENZYME: 3.10.1.1

Смотрите также:

  • SGSH Ген (ген гепарин-N-сульфатазы)