Gene: [04q2/GNPTA] UDP-N-acetylglucosaminyl-phosphotransferase; mucolipidoses II/III (I cell desease); pseudo-Hurler polydystrophy (MIM:252600; mucolipidosis III);
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FUN |
Systematic name: UDP-N-acetyl-D-glucosamine:lysosomal-enzyme N-acetyl-D-glucosaminyl-phosphotransferase. The reaction catalyzed: UDP-N-acetyl-D-glucosamine + lysosomal-enzyme D-mannose = = UMP + lysosomal-enzyme N-acetyl-D-glucosaminyl-phospho-D-mannose." |
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HET |
The MIM catalogues indicate both mucolipidosis forms - (II) I-cell disease and (III) pseudo-Hurler polydystrophy, as independent recessive markers under different numbers (MIM:252500 and MIM:252600, respectively). However, both the hypothesis on the allelism of these forms in the gene GNPTA and the hypothesis on the determination of these forms by different genes are not excluded." |
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REF |
PND "Ben-Yoseph &: Clin Genet, 33, 38-43, 1988 PHE,FOG,PAT "Gabel &: PNAS, 80, 775-779, 1983 PHE,FOG,PAT "Gatti &: Hum Genet, 70, 71-73, 1985 PHE,FOG,PAT "Hickman, Neufeld: BBRC, 49, 992-999, 1972 PHE,FOG,PAT "Honey &: Am J Med Genet, 9, 239-253, 1981 PHE,FOG,PAT "Kelly &: Johns Hopkins Med J, 137, 156-175, 1975 PHE,FOG,PAT "Kornfeld S: J Clin Invest, 77, 1-6, 1986 LOC,CYG "Mueller &: CCG, 46, (HGM9), 664, 1987 PHE,FOG,PAT "Mueller &: J Clin Invest, 72, 1016-1023, 1983 PHE,FOG,PAT "Okada &: Clin Genet, 28, 207-215, 1985 PHE,FOG,PAT "Shows &: Am J Med Genet, 12, 343-353, 1982 PHE,FOG,PAT "Sly, Fisher: J Cell Biochem, 18, 67-85, 1982 PHE,FOG,PAT "Varki &: AJHG, 34, 717-729, 1982 PHE,FOG,PAT "Varki &: PNAS, 78, 7773-7777, 1981 LOC,CYG "Vidgoff &: AJHG, 34, 64A, 1982 |
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KEY |
mtbd, carb, lys |
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CLA |
coding, basic |
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LOC |
04 q21-23 |
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MIM |
MIM: 252500 |
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EZN |
ENZYME: 2.7.8.17 |
