TMEM70 transmembrane protein 70
Gene ID: 54968, updated on 11-Apr-2024Gene type: protein coding
Also known as: MC5DN2
- See all available tests in GTR for this gene
- Go to complete Gene record for TMEM70
- Go to Variation Viewer for TMEM70 variants
Summary
This gene likely encodes a mitochondrial membrane protein. The encoded protein may play a role in biogenesis of mitochondrial ATP synthase. Mutations in this gene have been associated with neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]
Associated conditions
Genomic context
- Location:
- 8q21.11
- Sequence:
- Chromosome: 8; NC_000008.11 (73976195..73982783)
- Total number of exons:
- 4
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for TMEM70 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
- TMEM70 database
- Variation ViewerRelated Variants
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