PKD1L1 polycystin 1 like 1, transient receptor potential channel interacting
Gene ID: 168507, updated on 14-Nov-2024Gene type: protein coding
Also known as: HTX8; PRO19563
- See all available tests in GTR for this gene
- Go to complete Gene record for PKD1L1
- Go to Variation Viewer for PKD1L1 variants
Summary
This gene encodes a member of the polycystin protein family containing 11 transmembrane domains, a receptor for egg jelly (REJ) domain, and a polycystin-1, lipoxygenase, alpha-toxin (PLAT) domain. The encoded protein may play a role in the male reproductive system. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide and gene-based association studies of anxiety disorders in European and african american samples. GeneReviews: Not available | |
| Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection. GeneReviews: Not available | |
| Heterotaxy, visceral, 8, autosomal | See labs |
Genomic context
- Location:
- 7p12.3
- Sequence:
- Chromosome: 7; NC_000007.14 (47774614..47960906, complement)
- Total number of exons:
- 59
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PKD1L1 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
- 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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