PINX1 PIN2 (TERF1) interacting telomerase inhibitor 1
Gene ID: 54984, updated on 17-Jun-2024Gene type: protein coding
Also known as: Gno1; LPTL; LPTS; Pxr1
- See all available tests in GTR for this gene
- Go to complete Gene record for PINX1
- Go to Variation Viewer for PINX1 variants
Summary
Enables telomerase RNA binding activity and telomerase inhibitor activity. Involved in several processes, including negative regulation of DNA biosynthetic process; positive regulation of protein localization to nucleolus; and protein localization to organelle. Acts upstream of or within telomere maintenance via telomerase. Located in several cellular components, including chromosomal region; nuclear lumen; and spindle. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo. GeneReviews: Not available | |
| Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. GeneReviews: Not available |
Genomic context
- Location:
- 8p23.1
- Sequence:
- Chromosome: 8; NC_000008.11 (10764961..10839875, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PINX1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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