anti-Polycystic Kidney Disease 1 (Autosomal Dominant) Antibodies

Protein 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.

Alternative names and synonyms associated with Polycystic Kidney Disease 1 (Autosomal Dominant) (PKD1)

• polycystin 1, transient receptor potential channel interacting (PKD1) antibody
• polycystin 1, transient receptor poteintial channel interacting (Pkd1) antibody
• polycystin 1, transient receptor potential channel interacting (Pkd1) antibody
• polycystin-1 (LOC749291) antibody

• mFLJ00285 antibody
• PBP antibody
• Pc-1 antibody
• PC1 antibody
• TRPP1 antibody

Protein level used designations for PKD1

autosomal dominant polycystic kidney disease 1 protein , polycystic kidney disease-associated protein , polycystin 1 , polycystin-1 , transient receptor potential cation channel, subfamily P, member 1 , autosomal dominant polycystic kidney disease 1 protein homolog , polycystic kidney disease 1 homolog; polycystin-1 , polycystic kidney disease 1 (autosomal dominant) , polycystic kidney disease protein 1