Description:
WILSON DISEASE
ATPASE, CU(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Metal Metabolism |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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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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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Gene |
ATP7B |
| Chromosomal Location |
13q14.3 |
| Allelic Variant 1 |
E1064A; WILSON DISEASE |
| Identified Mutation |
GLU1064ALA |
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| Gene |
ATP7B |
| Chromosomal Location |
13q14.3 |
| Allelic Variant 2 |
606882.0006; WILSON DISEASE |
| Identified Mutation |
HIS1069GLN; In a study of 58 patients with Wilson disease, Thomas et al. (1995) found that 28% had a his1070-to-gln mutation located in the loop motif and disrupting ATP binding. The patients (19 in number) were of Eastern European, German, French, and British extraction. This mutation was homozygous in 6 families; there was variation in age of onset within these families and an equal number of hepatic and neurologic cases. The average age of onset of symptoms in patients homozygous for the mutation was 16.8 years. The same mutation was found in heterozygous state (compound heterozygotes) in 9 families with a total of 11 patients, with an average age of onset of 17.3 years. Figus et al. (1995) concluded that the H1070Q mutation is probably the most common molecular defect of the WND gene and may have arisen as a single and very ancient mutation event.
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| Remarks |
Diagnosed at age 24 as asymptomatic with "emotional instability"; low serum ceruloplasmin & high hepatic copper level; maintained on d-penicillamine; father had Wilson's disease; parents are first cousins; see GM05257 Fibroblast; donor subject is a compound heterozygote: one allele has an A>C change at nucleotide 3191 in the ATP7B gene (c.3191A>C) resulting in the substitution of alanine for glutamic acid at codon 1064 [Glu1064Ala (E1064A)] and the second allele has a C>A change at nucleotide 3207 (c.3207C>A) resulting in the substitution of glutamine for histidine at codon 1069 [His1069Gln (H1069Q)] |
| dbSNP |
dbSNP ID: 10804 |
| Gene Cards |
ATP7B |
| Gene Ontology |
GO:0000287 magnesium ion binding |
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GO:0004008 copper-exporting ATPase activity |
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GO:0005507 copper ion binding |
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GO:0005524 ATP binding |
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GO:0005794 Golgi apparatus |
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GO:0005887 integral to plasma membrane |
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GO:0006825 copper ion transport |
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GO:0008152 metabolism |
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GO:0016787 hydrolase activity |
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GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances |
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GO:0030001 metal ion transport |
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GO:0046873 metal ion transporter activity |
| NCBI Gene |
Gene ID:540 |
| NCBI GTR |
277900 WILSON DISEASE; WND |
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606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B |
| OMIM |
277900 WILSON DISEASE; WND |
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606882 ATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE; ATP7B |
| Omim Description |
HEPATOLENTICULAR DEGENERATIONATPase, Cu(2+)-TRANSPORTING, BETA POLYPEPTIDE, INCLUDED; ATP7B, INCLUDED |
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WILSON DISEASE |
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WND; WD |
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