PNLDC1 PARN like ribonuclease domain containing exonuclease 1
Gene ID: 154197, updated on 17-Jun-2024Gene type: protein coding
Also known as: SPGF57; Trimmer; HsPNLDC1
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- Go to complete Gene record for PNLDC1
- Go to Variation Viewer for PNLDC1 variants
Summary
Enables poly(A)-specific ribonuclease activity. Involved in nuclear-transcribed mRNA poly(A) tail shortening. Located in endoplasmic reticulum. Implicated in spermatogenic failure. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spermatogenic failure 57 | See labs |
Genomic context
- Location:
- 6q25.3
- Sequence:
- Chromosome: 6; NC_000006.12 (159799455..159820704)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PNLDC1 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
- Variation ViewerRelated Variants
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