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 |
