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

Смотрите также:

  • Gene: [0Xq131/PHKA1] phosphorylase kinase, alpha 1 subunit (muscle); glycogen storage disease, muscle;
  • Gene: [07^/PHKG1] phosphorylase kinase, gamma 1 (muscle);
  • HUGEN-Киназа фосфорилазы
  • HUGEN-PSK