PKHD1（PKHD1 ciliary IPT domain containing fibrocystin/polyductin），癌症关联基因，基因ID：5314，预测该基因编码的蛋白具有一个跨膜区和多拷贝的免疫球蛋白样转录因子域。选择性剪接导致两个转录变体编码不同的亚型已经描述了其他选择性剪接的转录本，但尚未确定全长序列这些转录本中的一些被预测将编码缺失tm的截短产物，并且可能被分泌。该基因突变引起常染色体隐性遗传性多囊肾病，又称多囊肾和肝脏疾病-1。[由RefSeq提供，2008年7月]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]。