Gene: [11q23/G6PT1] glucose-6-phosphatase, transport (glucose-6-phosphate) protein 1; glucose-6-phosphate translocase; glycogen storage disease type Ib (MIM:232220); [GSD1b ]


REL

GEM:00.0/G6PT2; GEM:00.0/G6PT3

REF

LIN,LOC "Annabi B &: AJHG, 62, 400-405, 1998
LIN,LOC "Fenske CD &: J Med Genet, 35, 269-272, 1998
CLO,SEQ,MUT "Gerin I &: FEBS Lett, 419, 235-238, 1997
LOC,MUT "Kure S &: BBRC, 248, 426-431, 1998
LOC "Veiga-da-Cunha M &: AJHG, 63, 976-983, 1998

SWI

SWISSPROT: O43826

CLA

coding, basic

LOC

11 q23

MIM

MIM: 602671

SYN

GSD1b

Смотрите также:

  • Gene: [17q21/G6PC] glucose-6-phosphate, catalytic; glycogen storage disease type Ia (von Gierke disease);
  • глюкозо-6-фосфатаза-HUGEN