PKHD1 Antibody – Rabbit Polyclonal

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq]

PKHD1: May be required for correct bipolar cell division through the regulation of centrosome duplication and mitotic spindle assembly. May be a receptor protein that acts in collecting-duct and biliary differentiation. Defects in PKHD1 are the cause of polycystic kidney disease autosomal recessive (ARPKD). ARPKD is a severe form of polycystic kidney disease affecting the kidneys and the hepatic biliary tract. The clinical spectrum is widely variable, with most cases presenting during infancy. The fetal phenotypic features classically include enlarged and echogenic kidneys, as well as oligohydramnios secondary to a poor urine output. Up to 50% of the affected neonates die shortly after birth, as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. In the subset that survives the perinatal period, morbidity and mortality are mainly related to severe systemic hypertension, renal insufficiency, and portal hypertension due to portal-tract fibrosis. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Cell surface; Membrane protein, integral

Chromosomal Location of Human Ortholog: 6p12.2

Cellular Component: anchored to external side of plasma membrane; centrosome; perinuclear region of cytoplasm; cytoplasm; apical plasma membrane; integral to membrane

Molecular Function: protein binding; receptor activity

Biological Process: cellular calcium ion homeostasis; cell-cell adhesion; negative regulation of protein kinase B signaling cascade; homeostatic process; inhibition of NF-kappaB transcription factor; positive regulation of cell proliferation; cilium biogenesis; negative regulation of cell motility; kidney development; negative regulation of apoptosis; regulation of TOR signaling pathway

Disease: Polycystic Kidney Disease, Autosomal Recessive