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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3
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Relation to Proband
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mother
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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 |
T977M; WILSON DISEASE |
| Identified Mutation |
THR977MET |
| Remarks |
No evidence of Wilson's disease; rheumatoid arthritis since age 21; 2 affected daughters; see GM05762A Fibroblast; donor subject is heterozygous for a C>T change at nucleotide 2930 in the ATP7B gene (c.2930C>T) resulting in the substitution of methionine for threonine at codon 977 [Thr977Met (T977M)] |
| dbSNP |
dbSNP ID: 23124 |
| 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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