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.
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Protein Aliases: AI118496; AI182499; Fibrocystin; Polycystic kidney and hepatic disease 1 protein; Polyductin; TIG multiple domains 1; Tigmin
Gene Aliases: ARPKD; FCYT; PKHD1; TIGM1
UniProt ID: (Human) P08F94
Entrez Gene ID: (Human) 5314