Gene: [16q121/PHKB] phosphorylase kinase, beta; glycogenosis of liver and muscle, autosomal (due to phosphorylase kinase deficiency);
FUN | Systematic name: ATP:phosphorylase b phosphotransferase. The reaction catalyzed: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a." |
PAT | Burwinkel-1997 showed that autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the beta subunit." |
REL | GEM:0Xq131/PHKA1. |
REF | MUT,PAT "Burwinkel B &: Hum Mol Genet, 6, N7, 1109-1115,
1997 LOC "Doggett NA &: CCG, 68, 165-184, 1995 LOC,PRO,FAG "Francke U &: AJHG, 45, 276-282, 1989 MAM,PRO,SEQ,EAG "Kilimann MF &: PNAS, 85, N24, 9381-9385, 1989 CLO,SEQ "Wullrich-Schmoll A, Kilimann MF: Eur J Biochem, 238, N2, 374-380, 1996 |
SWI | SWISSPROT: Q93100 |
KEY | carb |
CLA | coding, basic |
LOC | 16 q12.1 |
MIM | MIM: 172490 |
EZN | ENZYME: 2.7.1.38 |
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