PKD1P1
Description
The PKD1P1 (polycystin 1, transient receptor potential channel interacting pseudogene 1) is a pseudo gene located on chromosome 16.
PKD1P1 is a gene that encodes a protein involved in the formation and function of the primary cilium, a hair-like structure that protrudes from the surface of many cells. The primary cilium plays a role in sensing the environment and controlling cell signaling. Mutations in PKD1P1 can cause autosomal recessive polycystic kidney disease (ARPKD), a severe genetic disorder that affects the kidneys and liver.
PKD1P1 is involved in the formation of the primary cilium, a hair-like structure found on the surface of many cells. It interacts with other proteins to regulate the growth and function of the cilium, which plays a role in sensing the environment and controlling cell signaling. Mutations in PKD1P1 have been linked to autosomal recessive polycystic kidney disease (ARPKD), a severe genetic disorder that affects the kidneys and liver. In ARPKD, cysts form in the kidneys, leading to kidney failure. PKD1P1 may also play a role in other developmental processes, such as brain development.
PKD1P1 is also known as HG1, NPIP.
