polycystic kidney & hepatic disease 1 (fibrocystin, polyductin, tigmin, PKHD1, FCYT, TIGM1)

Function

• receptor protein
• role in collecting-duct & biliary differentiation

Structure

• contains 12 IPT/TIG domains. contains 9 PbH1 repeats

Compartment

membrane

Alternative splicing

• named isoforms=2
• additional isoforms seem to exist

Expression

• predominantly expressed in fetal & adult kidney
• expressed in adult pancreas at much lower levels
• expressed in fetal & adult liver
• indistinct in fetal brain

Pathology

• defects in PKHD1 are the cause of all typical forms of autosomal recessive polycystic kidney disease

More general terms

• membrane protein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/263200
• OMIM: https://mirror.omim.org/entry/606702
• UniProt: http://www.uniprot.org/uniprot/P08F94.html