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17 A3.3 17 12.4 cMStart24,549,834End24,596,508patternMolecular function.Cellular component.Biological process.Sources: /SpeciesHumanMouseRefSeq (mRNA)RefSeq (protein)Location (UCSC)searchPolycystin 1 (often abbreviated to PC1) is a that in is encoded by the PKD1. Mutations of PKD1 are associated with most cases of, a severe of the characterised by the development of renal cysts and severe kidney dysfunction. PC1 interacts with by a cytoplasmic coiled-coil domain.PC1 is a membrane-bound protein 4303 in length expressed largely upon the, as well as apical,.
It has 11, a large extracellular N-terminal domain, and a short (about 200 amino acid) C-terminal domain. This intracellular domain contains a coiled-coil domain through which PC1 interacts with (PC2), a membrane-bound Ca 2+-permeable.PC1 has been proposed to act as a. The C-terminal domain may be cleaved in a number of different ways. In one instance, a 35 kDa portion of the tail has been found to accumulate in the in response to decreased fluid flow in the mouse kidney. In another instance, a 15 kDa fragment may be yielded, interacting with transcriptional activator and co-activator and p100, or components of the canonical in an inhibitory manner.The structure of the human PKD1-PKD2 complex has been solved by, which showed a 1:3 ratio of PKD1 and PKD2 in the structure. PKD1 consists of a fold that interacts with PKD2.PC1 mediates of fluid flow by the primary cilium in the renal epithelium and of mechanical deformation of articular cartilage.Gene Splice variants encoding different isoforms have been noted for PKD1. The gene is closely linked to six in a known duplicated region on chromosome 16p.
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