TXNDC15 thioredoxin domain containing 15
Gene ID: 79770, updated on 5-Mar-2024Gene type: protein coding
Also known as: BUG; MKS14; UNQ335; C5orf14
- See all available tests in GTR for this gene
- Go to complete Gene record for TXNDC15
- Go to Variation Viewer for TXNDC15 variants
Summary
This gene encodes a member of the thioredoxin superfamily. Members of this family are characterized by a conserved active motif called the thioredoxin fold that catalyzes disulfide bond formation and isomerization. [provided by RefSeq, Apr 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available | |
| Meckel syndrome 14 | See labs |
Genomic context
- Location:
- 5q31.1
- Sequence:
- Chromosome: 5; NC_000005.10 (134873770..134901635)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TXNDC15 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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