PKHD1 Products

Description

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.

Bioinformatics

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