NA08443

NA08443 DNA from LCL

Description:

GLYCOGEN STORAGE DISEASE VII

Affected:

Yes

Sex:

Female

Age:

48 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases

Class

Disorders of Carbohydrate Metabolism

Quantity

25 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

DNA from LCL

Race

White

Ethnicity

JEWISH

Relation to Proband

proband

Confirmation

Clinical summary/Case history

Species

Homo sapiens

Common Name

Human

Remarks

Late onset; easily fatigued; increased reticulocyte count; failure to produce lactate after exercise; myopathic EMG; muscle biopsy showed increased polysaccharide (partly diastase digestible) & PFK deficiency; normal creatinine kinase

Characterizations

IDENTIFICATION OF SPECIES OF ORIGIN

Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis

GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME

PCR analysis of DNA from this cell culture gave a negative result with a primer for Yq11, DYS227.

6-phosphofructokinase

According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 2.7.1.11

Phenotypic Data

Remarks

External Links

dbSNP

dbSNP ID: 11123

Gene Ontology

GO:0000287 magnesium ion binding

GO:0003872 6-phosphofructokinase activity

GO:0005524 ATP binding

GO:0005737 cytoplasm

GO:0005945 6-phosphofructokinase complex

GO:0005977 glycogen metabolism

GO:0006006 glucose metabolism

GO:0006096 glycolysis

GO:0006110 regulation of glycolysis

GO:0016301 kinase activity

GO:0016740 transferase activity

NCBI Gene

Gene ID:5213

NCBI GTR

232800 GLYCOGEN STORAGE DISEASE VII; GSD7

OMIM

232800 GLYCOGEN STORAGE DISEASE VII; GSD7

Omim Description

GLYCOGEN DISEASE OF MUSCLE

GLYCOGEN STORAGE DISEASE VII

MUSCLE PHOSPHOFRUCTOKINASE DEFICIENCY

PFKM DEFICIENCY

TARUI DISEASEPHOSPHOFRUCTOKINASE, MUSCLE TYPE, INCLUDED; PFKM, INCLUDED

Pricing

Commercial/For-profit:

$225.00USD

Academic/Non-profit/Government:

$113.00USD