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Polycystic Kidney Disease 3 (autosomal Dominant)
Polycystic kidney disease 3 (autosomal dominant) is a protein that in humans is encoded by the PKD3 gene. Polycystic kidney disease (ADPKD) is a life threatening hereditary disorder; it is characterized by the development of fluid-filled cyst formation and expansion of the kidney and other organs. It is an autosomal dominant disease, and it is the most common hereditary disorders with a rate of occurrence of approximately 1 in 1000. Characteristics ADPKD is an autosomal dominant disease, it contains 3 types of mutation: PKD1 (16 Chr), PKD2 (4 Chr) PKD3 (11 Chr, this gene). Mutations in the 3 different genes PKD1, PKD2 and PKD3 cause a very similar disorder of the autosomal dominant form of polycystic kidney disease (ADPKD). The PKD3 gene is located on chromosome number 11q12.3; the phenotype MIM number is 600666. PKD3 it is the result of a mutation in the GANAB gene. The GANAB gene codes the catalytic alpha subunit of glucosidase II and noncatalytic beta subunit; the glycosyl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
