Gene: [0Xq2/IDS] iduronate 2-sulfatase (Hunter syndrome); Hunter syndrome (iduronate 2-sulfatase); mucopolysaccharidosis type II (Hunter syndrome);


CAG

On mucopolysaccharidosis type I see GEM:04p163/IDUA.

REL

GEM:0Xq2/IDSP1.

REF

MUT,HET "Birot AM &: Hum Mut, 7, 266-268, 1996a
MUT,HET "Birot AM &: Hum Mut, 8, 44-50, 1996b
MUT,HET "Bondeson M-L &: Eur J Hum Genet, 3, 219-227, 1995a
MUT,HET "Bondeson M-L &: Hum Mol Genet, 4, 615-621, 1995b
CLO,SEQ,STR "Flomen RH &: Hum Mol Genet, 2, 5-10, 1993
CLO,SEQ,LOC "Palmieri G &: Genomics, 12, 52-57, 1992
CLO,SEQ,LOC "Rathmann M &: Hum Genet, 95, 34-38, 1995
CLO,SEQ,LOC "Rogner UC &: Hum Mol Genet, 3, 2137-2146, 1994
MUT "Sukegawa K &: Hum Mut, 6, 136-143, 1995
CLO,SEQ,STR "Wilson PJ &: Genomics, 17, 773-775, 1993

KEY

mtbd, lys

CLA

coding, basic

LOC

0X q27.3-28

MIM

MIM: 309900

EZN

ENZYME: 3.1.6.13

Смотрите также:

  • IDS Ген (MPS II)
  • Биохимия идуронатсульфатазы