PKHD1
polycystic kidney and hepatic disease 1 (autosomal recessive)
Synonyms:
ARPKD, FCYT, TIGM1
Species:
Human PKHD1 (5314), Mouse Pkhd1 (241035), Rat Pkhd1 (301287), domestic cat PKHD1 (101095100), domestic guinea pig Pkhd1 (100735018), naked mole-rat Pkhd1 (101720073), sheep PKHD1 (101103679), Horse PKHD1 (100069045), cow PKHD1 (101908994), dog PKHD1 (474934)
UniProtKB ID:
Gene ID:
- Human(5314) 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, Jul 2008]
- Mouse(241035) polycystic kidney and hepatic disease 1
- Rat(301287) polycystic kidney and hepatic disease 1
- domestic cat(101095100) polycystic kidney and hepatic disease 1 (autosomal recessive)
- domestic guinea pig(100735018) polycystic kidney and hepatic disease 1 (autosomal recessive)
- naked mole-rat(101720073) polycystic kidney and hepatic disease 1 (autosomal recessive)
- sheep(101103679) polycystic kidney and hepatic disease 1 (autosomal recessive)
- Horse(100069045) polycystic kidney and hepatic disease 1 (autosomal recessive)
- cow(101908994) polycystic kidney and hepatic disease 1 (autosomal recessive)
- dog(474934) polycystic kidney and hepatic disease 1 (autosomal recessive)
- chicken(422044) polycystic kidney and hepatic disease 1 (autosomal recessive)
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