Gene: [04q2/GNPTA] UDP-N-acetylglucosaminyl-phosphotransferase; mucolipidoses II/III (I cell desease); pseudo-Hurler polydystrophy (MIM:252600; mucolipidosis III);

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."

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."

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

KEY

mtbd, carb, lys

CLA

coding, basic

LOC

04 q21-23

MIM

MIM: 252500

EZN

ENZYME: 2.7.8.17