Gene: [04p163/IDUA] alpha-L-iduronidase; mucopolysaccharidosis I (Hurler/Scheie syndromes; alpha-L-iduronidase deficiency);
COM | IDUA gene was unequivocally shown to be located in distal segments of the short arm of chromosome 4 (p16.1-16.3). The in situ hybridization of gene-specific probe on chromosomes, the Southern hybridization with human/mouse somatic hybrid cell DNA containing chr 4 fragments, as well as analysis of enzymatic activity and enzyme identification with monoclonal antibodies were used (Scott-1990). The conclusion about the localization of IDUA in chr 22 (Schuchman-1982 and others) has been ruled out." |
FUN | Systematic name: glycosaminoglycan-alpha-L-iduronohydrolase. The enzyme catalyzes hydrolysis of alpha-L-iduronosidic bonds in desulfated dermatan." |
PRO | Scott-1990 reported on the 1.5-kb gDNA fragment covering about a half of the coding region and cloned at PstI site, as well as on the 700-bp cDNA fragment isolated from human cDNA library using this genomic DNA clone." |
HIS | IDUA gene was generally accepted (on the basis of Schuchman-1982,1984 data) to be located in chromosome 22 (22pt-q11). These data were obtained in experiments on the analysis of enzyme activity (measured with the aid of polyclonal antibodies) in human/mouse somatic cell hybrids containing fragments of human chromosome 22. Later, more precise mapping methods were used, and IDUA was demonstrated to be located in chromosome 4 (Scott-1990)." |
REF | HIS,LIN,CYG "Astrin &:
CCG, 37, (HGM7), 405, 1984 PEP,SEQ,MOP "Clements &: Biochem J, 259, 199-208, 1989 IDN,PEP,FUN "Clements &: Eur J Biochem, 152, 21-28, 1985a IDN,PEP,FUN "Clements &: Eur J Biochem, 152, 29-34, 1985b PND "Danes &: Lancet, 1, 946-947, 1970 IDN,PAT,PHE "Danes, Bearn: Science, 149, 987-989, 1965 PAT,MEB,PHE,FOG "Fortuin, Kleijer: Hum Genet, 53, 155-159, 1980 PND "Fratantoni &: New Engl J Med, 280, 686-688, 1969 PAT,MEB,PHE,FOG "Fujibayashi S &: Hum Genet, 65, 268-272, 1984 PAT,MEB,PHE,FOG "Hopwood, Muller: Clin Sci, 57, 265-272, 1979 PND "Ikeno &: Hum Genet, 59, 353-359, 1981 PAT,MEB,PHE,FOG "Jensen &: Ophthalmologica, 176, 194-204, 1978 PAT,MEB,PHE,FOG "Kaibara N &: Hum Genet, 53, 37-41, 1979 PAT,MEB,PHE,FOG "Kajii &: Clin Genet, 6, 394-400, 1974 IDN,PAT,PHE "McKusick &: Medicine, 44, 445-483, 1965 PAT,MEB,PHE,FOG "Mueller &: Am J Med Genet, 18, 547-556, 1984 PAT,MEB,PHE,FOG "Neufeld EF: Prog Med Genet, 10, 81-101, 1974 PAT,MEB,PHE,FOG "Roubicek &: Am J Med Genet, 20, 471-481, 1985 IDN,PAT,PHE "Scheie &: Am J Ophthal, 53, 753-769, 1962 PAT,MEB,PHE,FOG,FUN,EXP "Schuchman EH, Desnick: J Clin Invest, 81, 98-105, 1988 MEB,FUN,EXP "Schuchman EH &: Enzyme, 31, 166-175, 1984a MEB,FUN,EXP "Schuchman EH &: JBC, 259, 3132-3140, 1984b HIS,LIN,CYG "Schuchman EH &: PNAS, 81, (Feb), 1169-1173, 1984c HIS,LIN,CYG "Schuchman EH &: AJHG, 34, 175A, 1982 PRO,COD,GEN,LOC "Scott HS &: AJHG, 47, N5, 802-807, 1990 PAT,MEB,PHE,FOG "Whitley CB &: Am J Med Genet, 28, 233-243, 1987a PND "Whitley CB &: Am J Med Genet, 28, 233-243, 1987b IDN,PAT,PHE "Wiesmann, Neufeld: Science, 169, 72-74, 1970 PAT,MEB,PHE,FOG "Winters &: Neurology, 26, 1003-1007, 1976 |
SWI | SWISSPROT: P35475 |
KEY | lys, mtbd, neu, eye |
CLA | coding, basic |
LOC | 04 p16.3 |
MIM | MIM: 252800 |
EZN | ENZYME: 3.2.1.76 |
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