| Entrez gene ID | | 5310 |
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| Official gene symbol | | PKD1 |
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| Full name | | polycystic kidney disease 1 (autosomal dominant) |
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| Aliases | | ,PBP,Pc-1,TRPP1, |
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| 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] |
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| Location | | Chromosome: 16 Locus: 16p13.3 |
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| Gene position | | 2185899 - 2138711 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 47189 bp |
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| Gene sequence |
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| OMIM ID | | 601313 |
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