PKHD1
Description 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]   Source
Gene Symbol PKHD1 Gene
Protein Name fibrocystin Uniprot
Synonyms FCYT; ARPKD and 8 more synonyms used to describe this biomarker that Amplion uses in its algorithms.

Associated Biomarker Indications

Biomarkers sample