Tissue expression
Cell line expression
Protein structure
PKD1
Polycystin 1, transient receptor potential channel interactingPBP, Pc-1, TRPP1
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]
Top validated antibodies |
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Biorbyt | orb2228180 | Polyclonal |
WB
EL
ICC
IHC
FC
|
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Everest Biotech | EB08670 | Polyclonal |
EL
ICC
IP
IHC |
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Novus Biologicals | NBP1-52552 | Polyclonal |
EL
ICC
IP
IHC |
||
antibodies-online | ABIN678083 | 4 references | Polyclonal |
ICC
IHC |
|
Bioss | bs-2157R | 4 references | Polyclonal |
ICC
IHC |
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