PTCD3 pentatricopeptide repeat domain 3
Gene ID: 55037, updated on 19-Sep-2024Gene type: protein coding
Also known as: mS39; COXPD51; MRP-S39
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- Go to complete Gene record for PTCD3
- Go to Variation Viewer for PTCD3 variants
Summary
Enables rRNA binding activity and ribosomal small subunit binding activity. Involved in mitochondrial translation. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in combined oxidative phosphorylation deficiency 51. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 51 | See labs |
| Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder. GeneReviews: Not available |
Genomic context
- Location:
- 2p11.2
- Sequence:
- Chromosome: 2; NC_000002.12 (86106235..86142157)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PTCD3 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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