PKHD1 Products

Description

PKHD1 protein (polycystic kidney and hepatic disease 1 protein) is encoded by PKHD1 gene whose mutations have been established as underlying cause of autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized mainly by cystic kidneys in the developing fetus in utero and post-natal pulmonary insufficiency as well as renal manifestations, abnormal biliary development with dilated bile ductules and peribiliary fibrosis, collectively termed congenital hepatic fibrosis (CHF). PKHD1 is a type I membrane protein with a large extracellular N-terminal domain, a single transmembrane segment, and a short cytoplasmic C-terminus. PKHD1 is a large protein with predicted molecular weight of 447 kD and is predominantly expressed in kidneys (the cortical and medullary collecting ducts), pancreas, liver etc. and in addition to other locations in the cells, it is localized on primary cilium, hair-like organelle present on cellular surfaces. PKHD1 is essential for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. Moreover, it has been suggested to act as a receptor that plays a role in collecting duct/biliary differentiation and lack of PKHD1 results in stunted primary cilia which have been proposed to underlie the pathogenesis of ARPKD.

Bioinformatics

Entrez	5314 Human
Uniprot	P08F94 Human
Product By Gene ID	5314
Alternate Names	polycystic kidney and hepatic disease 1 (autosomal recessive)