| Gene Name | TIMM8A |
|
| Specie | Homo sapiens | |
| Full Name | translocase of inner mitochondrial membrane 8A | |
| Also known as | DDP|DDP1|DFN1|MTS|TIM8 | |
| Coordinate | chrX:101345661-101348742 | |
| Strand | - | |
| Gene summary | This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009] |
| Retroname | Coord | Strand | Genomic Region | ENSG | |
|---|---|---|---|---|---|
| TIMM8AP1 | chr2:162076514-162077711 | - |
Intergenic |
ENSG00000231445 | UCSC |
| >NM_004085.4 |
| AGCTGTGGTTCCGGTTCCGTCGCGGAGACACGTGAAGGTCGGTGCGGAGTTCGTCTCTGCAAGCTTGGTCGCCCTGGGATGGATTCCTCCTCCTCTTCCTCCGCGGCGGGTTTGGGTGCAGTGGACCCGCAGTTGCAGCATTTCATCGAGGTAGAGACTCAAAAGCAGCGCTTCCAGCAGCTGGTGCACCAGATGACTGAACTTTGTTGGGAGAAGTGCATGGACAAGCCTGGGCCAAAGTTGGACAGTCGGGCTGAGGCCTGTTTTGTGAACTGCGTTGAGCGCTTCATTGATACAAGCCAGTTCATCTTGAATCGACTGGAACAGACCCAGAAATCCAAGCCAGTTTTCTCAGAAAGCCTTTCTGACTGATCTCAGCATTACCTCTTTGGAAAAGGAAGGTAGTTCAAGAAATGAAGAGCTGTTGATGGGATGATTGAAGAAACAGCTATGAGAGGATTGGCTCCCATCTTTTGTTACTCTTGGGACATCCTGTCATCTGAGAATGAACAAAGACCAATTTTTTGTGTGTGAAGCTTAAGGGTCATATGTTTGCTTGTATTTTTTAATGCTAATCTTGTGAAAATAATTGACAGGCGAAAGAAAACTCTATTTAGATGCATATTACTGTACATGGGACTATGCTTTTCTCAAAGCCCCATTAACTGCTTCCTATAATTTTGATAGTGGGACCACATACGTAAAAATCTCTCATTTGTGTGGAGTCATTTCTGATTTCAGGGGAGATCCTTGTGTTTATCAGAAAGGGCAGAAGTAGGGGAAGAATAATTTGGTATCCTTATCTAGTGTTTGATTGTCAATGCTGGAGAAAAATATCTGTAAGAGTGTTTATACAGTACACTTCAGTTATCTTGATCTCCCTTTCCTATATGATGATTTGCTTAAATATCCATATTAAGTAAGTCTCAAGGTAGGGTAGGCAGCCTGAGAGTCTAGAGGCCTTTAGTTATAAAGGAATCTAGCCAGTGAACATAATTCTTATTACTAGACTGCCACAAGGAAGAAATTAACTTACCCTGTATATCAGGGTACAAAAAATTCAGTGATGTGCCTAAATAAGTTATAAAGATTTAGGCCAATCAGAAGCTAACAGCAGTTTCAGGTAGAGGTGCATGCCTAATGTTAGTTAGTGTAGATTCCATTTACTGCATTCTTCTGATCACTGAAATAAAAGCTATATAAGATTCAA |