PKHD1, Official Symbol PKHD1provided by HGNC Official Full Name PKHD1 ciliary IPT domain containing fibrocystin/polyductinprovided by HGNC Primary source HGNC:HGNC:9016 See related Ensembl:ENSG00000170927 MIM:606702; AllianceGenome:HGNC:9016 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FPC; FCYT; PKD4; ARPKD; TIGM1 Summary 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] Expression Biased expression in kidney (RPKM 4.0), pancreas (RPKM 0.7) and 2 other tissues See more Orthologs mouse all