Database of mammalian genes
Home

Home Search Browse RAGs User guide FAQs Links Questions Contribute

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for PKHD1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID5314
Official gene symbolPKHD1
Full namepolycystic kidney and hepatic disease 1 (autosomal recessive)
Aliases,ARPKD,DKFZp686C01112,FCYT,FLJ46150,TIGM1,
Gene summaryThe 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]
LocationChromosome: 6   Locus: 6p12.2
Gene position51952423 - 51480145  Map Viewer
Gene orientationminus
Gene size472279 bp
Gene sequence
OMIM ID606702