YRDC yrdC N6-threonylcarbamoyltransferase domain containing
Gene ID: 79693, updated on 28-Oct-2024Gene type: protein coding
Also known as: IRIP; SUA5; DRIP3; GAMOS10
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- Go to complete Gene record for YRDC
- Go to Variation Viewer for YRDC variants
Summary
Enables L-threonylcarbamoyladenylate synthase. Involved in tRNA threonylcarbamoyladenosine modification. Acts upstream of or within negative regulation of transport. Is active in mitochondrion. Implicated in Galloway-Mowat syndrome. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Galloway-Mowat syndrome 10 | not available |
Genomic context
- Location:
- 1p34.3
- Sequence:
- Chromosome: 1; NC_000001.11 (37802945..37808208, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for YRDC 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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