Search results
Results from the WOW.Com Content Network
PKHD1 is the only gene that is found to be responsible for the disease presentation of ARPKD. [12] PKHD1 is located on the human chromosome region 6p21.1–6p12.2. [12] It is also one of the largest genes in the genome as it occupies approximately 450 kb of DNA, and contains at least 86 exons. [12]
Fibrocystin is a large, receptor-like protein that is thought to be involved in the tubulogenesis and/or maintenance of duct-lumen architecture of epithelium. [5] FPC associates with the primary cilia of epithelial cells and co-localizes with the Pkd2 gene product polycystin-2 (PC2), suggesting that these two proteins may function in a common molecular pathway.
Gene PKD2 is identified, using genetic linkage study, [17] [18] on chromosome 4. [19] A group of voltage-linked cation channels, with inward selectivity for K>Na>>Ca and outward selectivity for Ca2+ ≈ Ba2+ > Na+ ≈ K+, are coded for by PKD2 on chromosome 4. [20] PKD3 recently appeared in research papers as a postulated third gene.
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common, life-threatening inherited human disorders and the most common hereditary kidney disease. [1] [2] It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. [1]
5310 18763 Ensembl ENSG00000008710 ENSMUSG00000032855 UniProt P98161 O08852 RefSeq (mRNA) NM_000296 NM_001009944 NM_013630 RefSeq (protein) NP_000287 NP_001009944 NP_038658 Location (UCSC) Chr 16: 2.09 – 2.14 Mb Chr 17: 24.55 – 24.6 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Polycystin 1 (PC1) is a protein that in humans is encoded by the PKD1 gene. Mutations of PKD1 are ...
Figure 2 Location of the PKHD1 gene on chromosome 6, short (p) arm . The cause appears to be genetic; the simple form is an autosomal dominant trait, while the complex form is an autosomal recessive trait. [2] Females are more prone to Caroli disease than males. [8]
Polycystin-2 (PC2) [5] is a protein that in humans is encoded by the PKD2 gene. [6] [7] [8] The gene PKD2 also known as TRPP2, encodes a member of the polycystin protein family, called TRPP, and contains multiple transmembrane domains, and cytoplasmic N- and C-termini. The protein may be an integral membrane protein involved in cell-cell/matrix ...
The C receptor is a heterodimer consisting of a HLA-C mature gene product and β2-microglobulin. The mature C chain is anchored in the membrane. The mature C chain is anchored in the membrane. MHC Class I molecules, like HLA-C, are expressed in nearly all cells, and present small peptides to the immune system which surveys for non-self peptides.