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 |
