PKHD1

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]

该基因编码的蛋白质预测具有单一跨膜（TM）结构域和多个免疫球蛋白样plexin转录因子结构域的拷贝。可变剪接导致产生两种转录变体，分别编码不同的同源异构体。此外，尚有其他可变剪接转录本被描述，但其全长序列尚未确定。其中一些转录本预测编码缺失TM结构域的截断产物，这些产物可能被分泌。该基因中的突变会导致常染色体隐性多囊肾病，亦称多囊肾和肝疾病-1。[由RefSeq提供，2008年7月]