Gene: [12q14/GNS] N-acetylglucosamine-6-sulfatase; mucopolysaccharidosis type IIID (N-acetylglucosamine-6-sulfatase deficiency); SanFillippo syndrome D (N-acetylglucosamine-6-sulfatase deficiency);

FUN

N-acetylglucosamine-6-sulfatase catalyzes hydrolysis of the 6-sulfate group of the N-acetyl-D-glucosamine 6-sulfate units of heparan sulfates and keratan sulfates. Deficiency of the enzyme causes accumulation of heparan sulfates and terminal monosaccharides in lysosomes."

PAT

The disease manifests itself as a severe progressive mental retardation (with moderate somatic manifestations). The age of onset is 2-3 years, against a background of the preceeding normal development."

FOG

Mode of inheritance: autosomal recessive.

PRO

The pG6S probe is a 1.8-kb fragment cloned at EcoRI site in the plasmid pUC18.

REF

FUN "Freeman C &: Biochem J, 246, 347-354, 1987a
FUN "Freeman C, Hopwood JJ: Biochem J, 246, 355-365, 1987b
PAT "Kaplan P, Wolfe LS: J Pediatr, 110, 267-271, 1987
CLO,SEQ,STR "Robertson DA &: Biochem J, 288, 539-544, 1992
LOC,PRO "Robertson DA &: Hum Genet, 79, 175-178, 1988
PAT "Siciliano L &: J Med Genet, 28, 402-405, 1991
PAT,MOD "Thompson JN &: J Inherit Metab Dis, 15, 760-768, 1992

SWI

SWISSPROT: P15586

KEY

lys, mtbd, neu

CLA

coding, basic

LOC

12 q14

MIM

MIM: 252940

EZN

ENZYME: 3.1.6.14

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