PMID- 10026167
OWN - NLM
STAT- MEDLINE
DCOM- 19990318
LR  - 20210209
IS  - 0021-9258 (Print)
IS  - 0021-9258 (Linking)
VI  - 274
IP  - 9
DP  - 1999 Feb 26
TI  - Inactivation of the glucose 6-phosphate transporter causes glycogen storage
      disease type 1b.
PG  - 5532-6
AB  - Glycogen storage disease type 1b (GSD-1b) is proposed to be caused by a
      deficiency in microsomal glucose 6-phosphate (G6P) transport, causing a loss of
      glucose-6-phosphatase activity and glucose homeostasis. However, for decades,
      this disorder has defied molecular characterization. In this study, we
      characterize the structural organization of the G6P transporter gene and identify
      mutations in the gene that segregate with the GSD-1b disorder. We report the
      functional characterization of the recombinant G6P transporter and demonstrate
      that mutations uncovered in GSD-1b patients disrupt G6P transport. Our results,
      for the first time, define a molecular basis for functional deficiency in GSD-1b 
      and raise the possibility that the defective G6P transporter contributes to
      neutropenia and neutrophil/monocyte dysfunctions characteristic of GSD-1b
      patients.
FAU - Hiraiwa, H
AU  - Hiraiwa H
AD  - Heritable Disorders Branch, NICHD, National Institutes of Health, Bethesda,
      Maryland, 20892, USA.
FAU - Pan, C J
AU  - Pan CJ
FAU - Lin, B
AU  - Lin B
FAU - Moses, S W
AU  - Moses SW
FAU - Chou, J Y
AU  - Chou JY
LA  - eng
SI  - GENBANK/AF097831
PT  - Journal Article
PL  - United States
TA  - J Biol Chem
JT  - The Journal of biological chemistry
JID - 2985121R
RN  - 0 (Antiporters)
RN  - 0 (DNA Primers)
RN  - 0 (DNA, Complementary)
RN  - 0 (Monosaccharide Transport Proteins)
RN  - 0 (SLC37A4 protein, human)
RN  - 0 (glucose 6-phosphate(transporter))
RN  - 56-73-5 (Glucose-6-Phosphate)
SB  - IM
MH  - Animals
MH  - Antiporters/*antagonists & inhibitors
MH  - Base Sequence
MH  - COS Cells
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 11
MH  - Cloning, Molecular
MH  - DNA Primers
MH  - DNA, Complementary
MH  - Female
MH  - Glucose-6-Phosphate/metabolism
MH  - Glycogen Storage Disease Type I/*genetics
MH  - Humans
MH  - Hydrolysis
MH  - Male
MH  - Molecular Sequence Data
MH  - Monosaccharide Transport Proteins/*antagonists & inhibitors
MH  - Mutation, Missense
MH  - Pedigree
MH  - Polymorphism, Single-Stranded Conformational
EDAT- 1999/02/20 00:00
MHDA- 1999/02/20 00:01
CRDT- 1999/02/20 00:00
PHST- 1999/02/20 00:00 [pubmed]
PHST- 1999/02/20 00:01 [medline]
PHST- 1999/02/20 00:00 [entrez]
AID - 10.1074/jbc.274.9.5532 [doi]
AID - S0021-9258(19)87690-1 [pii]
PST - ppublish
SO  - J Biol Chem. 1999 Feb 26;274(9):5532-6. doi: 10.1074/jbc.274.9.5532.