PKHD1 (Entrez ID: 5314)

Entrez Gene ID 5314
Official Gene Symbol PKHD1 (GeneCards)
Full name PKHD1, fibrocystin/polyductin
Location 6p12.3-p12.2
Other ids Vega : OTTHUMG00000014841
MIM : 606702
HGNC : HGNC:9016
Ensembl : ENSG00000170927
Other names FPC, FCYT, PKD4, ARPKD, TIGM1
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]

Variants

Found 9 variants in this database.