PKHD1: Proteins and Enzymes

Found mainly in the cytoplasm and plasma membrane, PKHD1 plays an important role in protein binding and receptor activity. The protein encoded by PKHD1 has a single transmembrane (TM) spanning domain and various copies of an immunoglobulin-like plexin-transcription-factor domain. More specifically, these transcripts encode products which lack the TM and may be secreted. In humans, PKHD1 is highly expressed in the kidney by acting as a receptor protein in the cortical and medullary collecting ducts. Diseases associated with PKHD1 include polycystic kidney and hepatic disease, liver disease, neoplasia, fibrosis, cancer, adenocarcinoma and prostate cancer.