PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin
Gene ID: 5314, updated on 27-Nov-2024Gene type: protein coding
Also known as: FPC; FCYT; PCYT; PKD4; ARPKD; TIGM1
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- Go to complete Gene record for PKHD1
- Go to Variation Viewer for PKHD1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study. GeneReviews: Not available | |
| Genome-wide association of single-nucleotide polymorphisms with weight loss outcomes after Roux-en-Y gastric bypass surgery. GeneReviews: Not available | |
| Genome-wide association study and meta-analysis of intraocular pressure. GeneReviews: Not available | |
| NRXN3 is a novel locus for waist circumference: a genome-wide association study from the CHARGE Consortium. GeneReviews: Not available | |
| Polycystic kidney disease 4 | See labs |
Genomic context
- Location:
- 6p12.3-p12.2
- Sequence:
- Chromosome: 6; NC_000006.12 (51615299..52087615, complement)
- Total number of exons:
- 75
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PKHD1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PKHD1 database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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