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Functional analysis of mutations in the glucose-6-phosphate transporter that cause glycogen storage disease type Ib.

Abstract：

:The glucose-6-phosphate transporter (G6PT) deficient in glycogen storage disease type Ib is a phosphate (P(i))-linked antiporter capable of G6P: P(i) and P(i):P(i) exchanges. We previously characterized G6PT mutations by measuring G6P uptake activities in microsomes co-expressing G6PT and glucose-6-phosphatase-alpha. Here we report a new assay, based on reconstituted proteoliposomes carrying only G6PT, and characterize G6P and P(i) uptake activities of 23 G6PT mutations. We show that co-expression and G6PT-only assays are equivalent in measuring G6PT activity. However, the p.Q133P mutation exhibits differential G6P and P(i) transport activities, suggesting that characterizing G6P and P(i) transport activities of G6PT mutations may yield insights to this genetic disorder.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Chen SY,Pan CJ,Lee S,Peng W,Chou JY

doi

10.1016/j.ymgme.2008.08.005

subject

Has Abstract

pub_date

2008-12-01 00:00:00

pages

220-3

issue

4

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(08)00207-2

journal_volume

95

pub_type

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