Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.

Nature genetics ·Vol. 3 ·No. 1 ·1993-01-00 ·Pages 7-13

Vulpe C, Levinson B, Whitney S, Packman S, Gitschier J

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.

Related Genes

Mc1

MeSH Terms

Adenosine Triphosphatases/genetics,metabolism Amino Acid Sequence Animals Base Sequence Biological Transport, Active Blotting, Southern Carrier Proteins/genetics Cation Transport Proteins Cells, Cultured Chromosome Mapping Cloning, Molecular Copper/metabolism Copper-Transporting ATPases DNA/isolation & purification Gene Expression Gene Rearrangement Humans Menkes Kinky Hair Syndrome/enzymology,genetics Molecular Sequence Data Organ Specificity/genetics Recombinant Fusion Proteins Translocation, Genetic X Chromosome

Chemicals

Carrier Proteins Cation Transport Proteins Recombinant Fusion Proteins Copper DNA Adenosine Triphosphatases ATP7A protein, human Copper-Transporting ATPases

Authors & Affiliations

5 authors, click to expand affiliations / ORCID

Vulpe C

Department of Biochemistry, Howard Hughes Medical Institute, San Francisco, California.

Levinson B

Whitney S

Packman S

Gitschier J

Article Info

Journal

Nature genetics

Abbr.

Nat Genet

ISSN

1061-4036

DOI

10.1038/ng0193-7

Published

1993-01-00

Pages

7-13

Language

English

Region

United States

NLM ID

9216904

Subset

Databases

GENBANK

A24414, A25823, A25939, A30802, A31671, A32561, A36558, A36691, B28065, B39083, J02729, J04004, L06133, M24144, M90750, P20649, S00503, S03632

Corrections

ErratumIn

CommentIn

PMID: 8490649

External Links

PubMed source DOI: 10.1038/ng0193-7 View journal details

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Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPase.

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