NXNL1 nucleoredoxin like 1
Gene ID: 115861, updated on 5-Mar-2024Gene type: protein coding
Also known as: RDCVF; TXNL6
- See all available tests in GTR for this gene
- Go to complete Gene record for NXNL1
- Go to Variation Viewer for NXNL1 variants
Summary
Retinitis pigmentosa (RP) is a disease that leads to blindness by degeneration of cone photoreceptors. Rods produce factors required for cone viability. The protein encoded by this gene is one of those factors and is similar to a truncated form of thioredoxin. This gene has been proposed to have therapeutic value against RP. [provided by RefSeq, Dec 2015]
Genomic context
- Location:
- 19p13.11
- Sequence:
- Chromosome: 19; NC_000019.10 (17455425..17460926, complement)
- Total number of exons:
- 2
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NXNL1 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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