| Entrez Gene ID |
5314 (NCBI Gene) |
| Official Gene Symbol |
PKHD1 (GeneCards) |
| Number of variants in PKHD1 in this database |
9 (view all the variants) |
| Full name |
PKHD1, fibrocystin/polyductin |
| Band |
6p12.3-p12.2 |
| Other IDs |
Vega:
OTTHUMG00000014841
OMIM:
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] |