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NA01982 DNA from LCL

Description:

MENKES SYNDROME
ATPASE, CU(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A

Affected:

Yes

Sex:

Male

Age:

2 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Metal 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
Family Member 1
Relation to Proband proband
Confirmation Molecular characterization - other
ISCN 46,XY
Species Homo sapiens
Common Name Human
Remarks See GM01981 Fibroblast; 46,XY; fibroblasts show elevated copper concentration; donor subject has a 5 bp deletion at nucleotide 803 in exon 4 of the ATP7A gene (803_807delATCTC) causing a frameshift after Leu219

Characterizations

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IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase Isoenzyme Electrophoresis and by Chromosome Analysis
 
GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227.
 
MNK GENE; MENKES SYNDROME Das et al (Am J Hum Genet 55:883-889,1994) reported that fibroblasts from this Menkes syndrome patient showed a five bp deletion, ATCTT, from nucleotide 803-807 in the MNK gene. The mutation results in a frameshift after Leu-219 and decreased level of mRNA detected by northern blot analysis.
 
Gene ATP7A
Chromosomal Location Xq21.1
Allelic Variant 1 fs Leu219; MENKES DISEASE
Identified Mutation 803_807delATCTC

Phenotypic Data

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Remarks See GM01981 Fibroblast; 46,XY; fibroblasts show elevated copper concentration; donor subject has a 5 bp deletion at nucleotide 803 in exon 4 of the ATP7A gene (803_807delATCTC) causing a frameshift after Leu219

Publications

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Petrovic N, Comi A, Ettinger MJ, Copper incorporation into superoxide dismutase in Menkes lymphoblasts. J Biol Chem271:28335-40 1996
PubMed ID: 8910456
 
Das S, Levinson B, Whitney S, Vulpe C, Packman S, Gitschier J, Diverse mutations in patients with Menkes disease often lead to exon skipping. Am J Hum Genet55:883-889 1994
PubMed ID: 7977350

External Links

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dbSNP dbSNP ID: 10466
Gene Cards ATP7A
Gene Ontology GO:0000287 magnesium ion binding
GO:0004008 copper-exporting ATPase activity
GO:0005507 copper ion binding
GO:0005524 ATP binding
GO:0005794 Golgi apparatus
GO:0005887 integral to plasma membrane
GO:0006825 copper ion transport
GO:0008152 metabolism
GO:0015097 mercury ion transporter activity
GO:0015694 mercury ion transport
GO:0016787 hydrolase activity
GO:0016820 hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances
GO:0030001 metal ion transport
GO:0046873 metal ion transporter activity
NCBI Gene Gene ID:538
NCBI GTR 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
309400 MENKES DISEASE; MNK
OMIM 300011 ATPase, Cu(2+)-TRANSPORTING, ALPHA POLYPEPTIDE; ATP7A
309400 MENKES DISEASE; MNK
Omim Description COPPER TRANSPORT DISEASE
  KINKY HAIR DISEASE
  MENKES SYNDROME
  MK; MNK
  STEELY HAIR DISEASE

Images

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View pedigree 
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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