Gene: [16p112/PHKG2] phosphorylase kinase, gamma 2 (testis/liver); glycogenosis, hepatic (phosphorylase kinase deficiency); cirrhosis due to liver phosphorylase kinase deficiency;
FUN | Systematic name: ATP:phosphorylase b phosphotransferase. The reaction catalyzed: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a." |
REF | MUT
"Burwinkel B &: Hum Mol Genet, 7, N1, 149-154, 1998 LOC "Doggett NA &: CCG, 68, N3-4, 165-184, 1995 CLO,SEQ "Hanks SK &: Mol Endocrinol, 3, N1, 110-116, 1989 CLO "Hanks SK &: PNAS, 84, N2, 388-392, 1987 MUT "Maichele AJ &: Nature Genet, 14, N3, 337-340, 1996 |
SWI | SWISSPROT: P15735 |
KEY | carb |
CLA | coding, basic |
LOC | 16 p11.2 |
MIM | MIM: 172471 |
EZN | ENZYME: 2.7.1.38 |
