Entrez gene ID | | 5314 |
Official gene symbol | | PKHD1 |
Full name | | polycystic kidney and hepatic disease 1 (autosomal recessive) |
Aliases | | ,ARPKD,DKFZp686C01112,FCYT,FLJ46150,TIGM1, |
Gene 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] |
Location | | Chromosome: 6 Locus: 6p12.2 |
Gene position | | 51952423 - 51480145 Map Viewer |
Gene orientation | | minus |
Gene size | | 472279 bp |
Gene sequence |
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OMIM ID | | 606702 |