TTC19 tetratricopeptide repeat domain 19
Gene ID: 54902, updated on 7-Apr-2024Gene type: protein coding
Also known as: MC3DN2; 2010204O13Rik
- See all available tests in GTR for this gene
- Go to complete Gene record for TTC19
- Go to Variation Viewer for TTC19 variants
Summary
This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. This protein is embedded in the inner mitochondrial membrane and is involved in the formation of the mitochondrial respiratory chain III. It has also been suggested that this protein plays a role in cytokinesis. Mutations in this gene cause mitochondrial complex III deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Mitochondrial complex III deficiency nuclear type 2 | See labs |
Genomic context
- Location:
- 17p12
- Sequence:
- Chromosome: 17; NC_000017.11 (15999824..16045015)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TTC19 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
- TTC19 @ LOVD
- Variation ViewerRelated Variants
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