Gene: [0Xp213/GK] glycerol kinase; hyperglycerolemia (due to glycerol kinase deficiency);


FAG

In human 6 GK-pseudogenes have been identified: GEM:01q41/GKP1; GEM:04q13/GKP2; GEM:04q32/GKP3; GEM:07p/GKP4; GEM:10p112/GKP5; GEM:0Xq22/GKP6."

REF

MAP "Burmeister M &: Genomics, 2, 189-202, 1988
MAP "Chelly J &: Hum Genet, 78, N3, 222-227, 1988
MAP "Francke U &: AJHG, 40, 212-227, 1987
LOC,SEQ,CLO "Guo W &: Nature Genet, 4, N4, 367-372, 1993
LOC,SEQ,CLO "Sargent CA &: Hum Mol Genet, 3, N8, 1317-1324, 1994
LOC,SEQ,CLO "Sargent CA &: Hum Mol Genet, 2, 97-106, 1993
MUT,PAT "Walker AP &: AJHG, 58, N6, 1205-1211, 1996
LOC,SEQ,CLO "Walker AP &: Hum Mol Genet, 2, 107-114, 1993
LOC,CLO "Walker AP &: Hum Mol Genet, 1, 579-585, 1992
LOC,CLO "Worley KC &: Genomics, 13, 957-961, 1992
MAP "Yates JRM &: CCG, 46, (HGM9), 723-724, 1987

SWI

 SWISSPROT: P32189

KEY

carb

CLA

coding, basic

LOC

0X p21.3

MIM

 MIM: 307030

EZN

 ENZYME: 2.7.1.30

Смотрите также:

  • глицеролкиназа-HUGEN