PLRG1 pleiotropic regulator 1
Gene ID: 5356, updated on 17-Aug-2024Gene type: protein coding
Also known as: Cwc1; PRL1; PRP46; PRPF46; TANGO4
- See all available tests in GTR for this gene
- Go to complete Gene record for PLRG1
- Go to Variation Viewer for PLRG1 variants
Summary
This gene encodes a core component of the cell division cycle 5-like (CDC5L) complex. The CDC5L complex is part of the spliceosome and is required for pre-mRNA splicing. The encoded protein plays a critical role in alternative splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease. GeneReviews: Not available |
Genomic context
- Location:
- 4q31.3
- Sequence:
- Chromosome: 4; NC_000004.12 (154535005..154550400, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PLRG1 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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