Glucose-6-phosphatase Catalytic Subunit Gene Family

被引：154

作者：

Hutton, John C. ^{[2
]}

O'Brien, Richard M. ^{[1
]}

机构：

[1] Vanderbilt Univ, Dept Mol Physiol & Biophys, Sch Med, Nashville, TN 37232 USA

[2] Univ Colorado Denver, Barbara Davis Ctr Childhood Diabet, Aurora, CO 80045 USA

来源：

JOURNAL OF BIOLOGICAL CHEMISTRY | 2009年 / 284卷 / 43期

基金：

美国国家卫生研究院;

关键词：

GLYCOGEN-STORAGE-DISEASE; ISLETS IN-VIVO; PROTEIN IGRP; GLUCOSE-METABOLISM; T-CELLS; EXPRESSION; PROMOTER; MOUSE; IDENTIFICATION; TRANSCRIPTION;

D O I：

10.1074/jbc.R109.025544

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Glucose-6-phosphatase catalyzes the hydrolysis of glucose 6-phosphate (G6P) to glucose and inorganic phosphate. It is a multicomponent system located in the endoplasmic reticulum that comprises several integral membrane proteins, namely a catalytic subunit (G6PC) and transporters for G6P, inorganic phosphate, and glucose. The G6PC gene family contains three members, designated G6PC, G6PC2, and G6PC3. The tissue-specific expression patterns of these genes differ, and mutations in all three genes have been linked to distinct diseases in humans. This minireview discusses the disease association and transcriptional regulation of the G6PC genes as well as the biological functions of the encoded proteins.

引用

页码：29241 / 29245

页数：5

共 52 条

[1] Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit-related protein [J].

Arden, SD ;

Zahn, T ;

Steegers, S ;

Webb, S ;

Bergman, B ;

O'Brien, RM ;

Hutton, JC .

DIABETES, 1999, 48 (03) :531-542

[2] Characterization of the mouse islet-specific glucose-6-phosphatase catalytic subunit-related protein gene promoter by in situ footprinting -: Correlation with fusion gene expression in the islet-derived βTC-3 and hamster insulinoma tumor cell lines [J].

Bischof, LJ ;

Martin, CC ;

Svitek, CA ;

Stadelmaier, BT ;

Hornbuckle, LA ;

Goldman, JK ;

Oeser, JK ;

Hutton, JC ;

O'Brien, RM .

DIABETES, 2001, 50 (03) :502-514

[3] A polymorphism within the G6PC2 gene is associated with fasting plasma glucose levels [J].

Bouatia-Naji, Nabila ;

Rocheleau, Ghislain ;

Van Lommel, Leentje ;

Lemaire, Katleen ;

Schuit, Frans ;

Cavalcanti-Proenca, Christine ;

Marchand, Marion ;

Hartikainen, Anna-Liisa ;

Sovio, Ulla ;

De Graeve, Franck ;

Rung, Johan ;

Vaxillaire, Martine ;

Tichet, Jean ;

Marre, Michel ;

Balkau, Beverley ;

Weill, Jacques ;

Elliott, Paul ;

Jarvelin, Marjo-Riitta ;

Meyre, David ;

Polychronakos, Constantin ;

Dina, Christian ;

Sladek, Robert ;

Froguel, Philippe .

SCIENCE, 2008, 320 (5879) :1085-1088

[4] Identification and characterization of a cDNA and the gene encoding the mouse ubiquitously expressed glucose-6-phosphatase catalytic subunit-related protein [J].

Boustead, JN ;

Martin, CC ;

Oeser, JK ;

Svitek, CA ;

Hunter, SI ;

Hutton, JC ;

O'Brien, RM .

JOURNAL OF MOLECULAR ENDOCRINOLOGY, 2004, 32 (01) :33-53

[5] A Syndrome with Congenital Neutropenia and Mutations in G6PC3 [J].

Boztug, Kaan ;

Appaswamy, Giridharan ;

Ashikov, Angel ;

Schaffer, Alejandro A. ;

Salzer, Ulrich ;

Diestelhorst, Jana ;

Germeshausen, Manuela ;

Brandes, Gudrun ;

Lee-Gossler, Jacqueline ;

Noyan, Fatih ;

Gatzke, Anna-Katherina ;

Minkov, Milen ;

Greil, Johann ;

Kratz, Christian ;

Petropoulou, Theoni ;

Pellier, Isabelle ;

Bellanne-Chantelot, Christine ;

Rezaei, Nima ;

Moenkemoeller, Kirsten ;

Irani-Hakimeh, Noha ;

Bakker, Hans ;

Gerardy-Schahn, Rita ;

Zeidler, Cornelia ;

Grimbacher, Bodo ;

Welte, Karl ;

Klein, Christoph .

NEW ENGLAND JOURNAL OF MEDICINE, 2009, 360 (01) :32-43

[6] The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic [J].

Chen, Shih-Yin ;

Pan, Chi-Jiunn ;

Nandigama, Krishnamachary ;

Mansfield, Brian C. ;

Ambudkar, Suresh V. ;

Chou, Janice Y. .

FASEB JOURNAL, 2008, 22 (07) :2206-2213

[7] Control of glucose uptake and release by the liver in vivo [J].

Cherrington, AD .

DIABETES, 1999, 48 (05) :1198-1214

[8] Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-β [J].

Cheung, Yuk Yin ;

Kim, So Youn ;

Yiu, Wai Han ;

Pan, Chi-Jiunn ;

Jun, Hyun-Sik ;

Ruef, Robert A. ;

Lee, Eric J. ;

Westphal, Heiner ;

Mansfield, Brian C. ;

Chou, Janice Y. .

JOURNAL OF CLINICAL INVESTIGATION, 2007, 117 (03) :784-793

[9] Absence of the SRC-2 Coactivator Results in a Glycogenopathy Resembling Von Gierke's Disease [J].

Chopra, Atul R. ;

Louet, Jean-Francois ;

Saha, Pradip ;

An, Jie ;

DeMayo, Franco ;

Xu, Jianming ;

York, Brian ;

Karpen, Saul ;

Finegold, Milton ;

Moore, David ;

Chan, Lawrence ;

Newgard, Christopher B. ;

O'Malley, Bert W. .

SCIENCE, 2008, 322 (5906) :1395-1399

[10] Mutations in the glucose-6-phosphatase-α (G6PC) gene that cause type Ia glycogen storage disease [J].

Chou, Janice Y. ;

Mansfield, Brian C. .

HUMAN MUTATION, 2008, 29 (07) :921-930

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