Aliases for PKHD1 Gene
External Ids for PKHD1 Gene
Previous HGNC Symbols for PKHD1 Gene
Previous GeneCards Identifiers for PKHD1 Gene
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, Jul 2008]
GeneCards Summary for PKHD1 Gene
PKHD1 (Polycystic Kidney And Hepatic Disease 1 (Autosomal Recessive)) is a Protein Coding gene. Diseases associated with PKHD1 include polycystic kidney and hepatic disease and congenital hepatic fibrosis. GO annotations related to this gene include receptor activity. An important paralog of this gene is CEMIP.
UniProtKB/Swiss-Prot for PKHD1 Gene
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.