Abstract
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Amino Acid Sequence
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Animals
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Base Sequence
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Caenorhabditis elegans / chemistry
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Caenorhabditis elegans / genetics
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Calcium Channels / chemistry
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Calcium Channels / genetics
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Chromosome Mapping
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Chromosomes, Human, Pair 4
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Cloning, Molecular
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Consensus Sequence
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Crystallography, X-Ray
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Female
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Glycosylation
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Humans
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Male
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Membrane Proteins / chemistry
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Membrane Proteins / genetics*
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Membrane Proteins / physiology
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Molecular Sequence Data
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Mutation
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Pedigree
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Phenotype
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Polycystic Kidney, Autosomal Dominant / genetics*
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Polymorphism, Single-Stranded Conformational
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Proteins / chemistry
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Proteins / genetics
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Sodium Channels / chemistry
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Sodium Channels / genetics
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TRPP Cation Channels
Substances
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Calcium Channels
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Membrane Proteins
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Proteins
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Sodium Channels
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TRPP Cation Channels
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polycystic kidney disease 1 protein
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polycystic kidney disease 2 protein