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NA13668 DNA from Fibroblast

Description:

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

Affected:

Yes

Sex:

Male

Age:

No Data

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

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Class Disorders of Metal Metabolism
Quantity 0.050mg
Quantitation Method Please see our FAQ
Cell Type Fibroblast
Transformant Untransformed
Sample Source DNA from Fibroblast
Relation to Proband proband
Confirmation Molecular characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks Line S1401; decreased level of mRNA; donor subject has a 5bp deletion at nucleotide 798 in exon 4 of the ATP7A gene (798_802delATCTT) causing a frameshift after His218

Characterizations

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Passage Frozen 11
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis
 
Gene ATP7A
Chromosomal Location Xq21.1
Allelic Variant 1 fs his218; MENKES DISEASE
Identified Mutation 798_802delATCTT

Phenotypic Data

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Remarks Line S1401; decreased level of mRNA; donor subject has a 5bp deletion at nucleotide 798 in exon 4 of the ATP7A gene (798_802delATCTT) causing a frameshift after His218

Publications

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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: 11848
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
Pricing
Commercial/For-profit:
$281.00USD
Academic/Non-profit/Government:
$139.00USD
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