| ncRNA Symbol: | PKD1 | | Full Name: | polycystin 1, transient receptor potential channel interacting | | Category: | mRNA | | Synonyms: | PBP|PC1|Pc-1|TRPP1 | | Chromosome: | chr16 | | Strand: | - | | Coordinate: | | Start Site(bp): | 2088710 | End Site(bp): | 2135898 |
| | Gene Summary: | This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008] | | External Links: | |
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