Abstract
Menkes disease is an X-linked disorder of copper transport characterized by progressive neurological degeneration and death in early childhood. We have isolated a candidate gene (Mc1) for Menkes disease and find qualitative or quantitative abnormalities in the mRNA in sixteen of twenty-one Menkes patients. Four patients lacking Mc1RNA showed rearrangements of the Menkes gene. The gene codes for a 1,500 amino acid protein, predicted to be a P-type cation-transporting ATPase. The gene product is most similar to a bacterial copper-transporting ATPase and additionally contains six putative metal-binding motifs at the N-terminus. The gene is transcribed in all cell types tested except liver, consistent with the expression of the Menkes defect.
MeSH terms
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Adenosine Triphosphatases / genetics*
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Adenosine Triphosphatases / metabolism
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Amino Acid Sequence
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Animals
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Base Sequence
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Biological Transport, Active
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Blotting, Southern
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Carrier Proteins / genetics*
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Cation Transport Proteins*
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Cells, Cultured
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Chromosome Mapping
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Cloning, Molecular
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Copper / metabolism*
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Copper-Transporting ATPases
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DNA / isolation & purification
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Gene Expression
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Gene Rearrangement
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Humans
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Menkes Kinky Hair Syndrome / enzymology
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Menkes Kinky Hair Syndrome / genetics*
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Molecular Sequence Data
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Organ Specificity / genetics
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Recombinant Fusion Proteins*
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Translocation, Genetic
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X Chromosome
Substances
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Carrier Proteins
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Cation Transport Proteins
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Recombinant Fusion Proteins
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Copper
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DNA
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Adenosine Triphosphatases
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ATP7A protein, human
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Copper-Transporting ATPases
Associated data
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GENBANK/A24414
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GENBANK/A25823
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GENBANK/A25939
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GENBANK/A30802
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GENBANK/A31671
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GENBANK/A32561
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GENBANK/A36558
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GENBANK/A36691
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GENBANK/B28065
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GENBANK/B39083
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GENBANK/J02729
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GENBANK/J04004
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GENBANK/L06133
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GENBANK/M24144
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GENBANK/M90750
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GENBANK/P20649
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GENBANK/S00503
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GENBANK/S03632