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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