Description:
FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY
FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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B-Lymphocyte
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Country of Origin
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USA
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Family History
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N
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Relation to Proband
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proband
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Gene |
FBP1 |
| Chromosomal Location |
9q22.32 |
| Allelic Variant 1 |
; |
| Identified Mutation |
Del 4T on intron 9 |
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| Gene |
FBP1 |
| Chromosomal Location |
9q22.32 |
| Allelic Variant 1 |
; |
| Identified Mutation |
A>A+G on intron 10 |
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| Gene |
FBP1 |
| Chromosomal Location |
9q22.32 |
| Allelic Variant 1 |
; |
| Identified Mutation |
G>A on exon 3 |
| Remarks |
Clinically affected; symptom onset at 6 months old; diagnosed at 1 year of age; donor subject has the following mutations in the FBP1 gene: deletion of 4T on intron 9, an A>A+G substitution in intron 10, and a G>A substitution in exon 3. |
| Gene Cards |
FBP1 |
| Gene Ontology |
GO:0004331 fructose-2,6-bisphosphate 2-phosphatase activity |
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GO:0005975 carbohydrate metabolism |
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GO:0006000 fructose metabolism |
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GO:0006094 gluconeogenesis |
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GO:0016787 hydrolase activity |
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GO:0042132 fructose-bisphosphatase activity |
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GO:0042578 phosphoric ester hydrolase activity |
| NCBI Gene |
Gene ID:2203 |
| NCBI GTR |
229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D |
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611570 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1 |
| OMIM |
229700 FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY; FBP1D |
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611570 FRUCTOSE-1,6-BISPHOSPHATASE 1; FBP1 |
| Omim Description |
FRUCTOSE-1,6-BISPHOPHATASE 1; FBP1 |
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FRUCTOSE-1,6-BISPHOSPHATASE, LIVERFRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY, INCLUDED |
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FRUCTOSE-1,6-DIPHOSPHATASE |
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