Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:3.1.27.5 (
RNase
)
17,967
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
We report the structure of the human gene encoding the putative glucose 6-phosphate translocase that is mutated in
glycogen storage disease
type Ib. Northern blots showed that the encoded 2.4 kb mRNA is mainly expressed in liver and in kidney, but is also present, although in barely detectable amounts, in leucocytes. The gene contains nine exons, one of which (exon 7) is not present in human liver or leucocyte RNA. RT-PCR analysis of mouse RNA indicates that exon 7, which is 63 bp long compared with 66 bp in man, is not expressed in liver and kidney but well in heart and brain. 5'-RACE and
RNase
protection assays performed on RNAs from human liver, kidney and leucocytes indicated the presence of two main regions of transcription start at approximately -200 and -100 bp with respect to the initiator ATG.
...
PMID:Structure of the gene mutated in glycogen storage disease type Ib. 1002 55
