MIEF1 mitochondrial elongation factor 1
Gene ID: 54471, updated on 28-Oct-2024Gene type: protein coding
Also known as: D3A; MID51; OPA14; L0R8F8; SMCR7L; AltMIEF1; HSU79252; MIEF1-MP; dJ1104E15.3
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- Go to complete Gene record for MIEF1
- Go to Variation Viewer for MIEF1 variants
Summary
Enables identical protein binding activity; mitochondrial large ribosomal subunit binding activity; and purine ribonucleotide binding activity. Involved in several processes, including mitochondrial large ribosomal subunit assembly; mitochondrion organization; and regulation of mitochondrion organization. Located in mitochondrial matrix and mitochondrial outer membrane. Implicated in optic atrophy. [provided by Alliance of Genome Resources, Oct 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Optic atrophy 14 | See labs |
Genomic context
- Location:
- 22q13.1
- Sequence:
- Chromosome: 22; NC_000022.11 (39500100..39518132)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MIEF1 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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