Polycystic kidney disease 2

PKD2 ( polycystic kidney disease Abbreviation for for 2 (autosomal dominant) = " polycystic kidney disease 2 ( autosomal dominant) ") is a gene that is present in both humans and other mammalian species in the genome.

Function

The PKD2 gene encodes the glycoprotein polycystin -2. Mutations in PKD2 can be inherited as an autosomal dominant and then lead to autosomal dominant polycystic kidney disease ( ADPKD ). While mutations is responsible for about 85% of cystic kidneys in PKD1, there are about 15 % for PKD2. Significant mutations in PKD2 lead to a milder form of cystic kidney. In the patients affected, the end-stage renal failure is having about 70 years, while this occurs earlier for mutations in PKD1 10 to 20 years.

Genetics

The PKD2 gene is located on chromosome 4 in human gene locus q21 - q23.

About 68 kb includes the PKD2 gene, and it contains 15 exons. The corresponding mRNA is approximately 5.4 kb and the resulting encoded polycystin - 2 968 amino acids. In contrast to PKD1 it contains no polypyrimidine sequence. Exon 1 has a relatively high mutation probability, since it is rich in guanine and cytosine. PKD2 has no gene homologues in humans. It is available as a single-copy gene.

Mutations

By 2005, about 45 different mutations in PKD2 were known. These are essentially simple base substitutions or insertions or deletions of a few base pairs or frameshifts.