Home

Search

Browse

Statistics

User guide

FAQs

Links

Questions

Contribute

Download

Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for TIMM8A (Homo sapiens) (Information is obtained from NCBI Gene database)

Entrez gene ID 1678 Official gene symbol TIMM8A Full name translocase of inner mitochondrial membrane 8 homolog A (yeast) Aliases ,DDP,DDP1,DFN1,MGC12262,MTS,TIM8, 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. Location Chromosome: X   Locus: Xq22.1 Gene position 100603957 - 100600644  Map Viewer Gene orientation minus Gene size 3314 bp Gene sequence >TIMM8A:complement(23896952..23900265):Length=3314 ATCTCAACGGCACCTCGGCTCTGGGCTGTAAGCCCTGCGATCTCAAGGCGCAAGGCTGGG CGCAACGGCAGGGTTGCGGGGTTACGGGATTGCGGGGTCCGGGGAGTGGAACCCGCCGAC TCCGGGAACGAAGCACCGGCGCCAAGGTGTGGGAGGCGGCGGGGTGGAGTTGGACGCCTG CCTCGCGCCGACGCAGTGCACTCACGGGGGCGGTCCCAGAGGCAGCTAGCTGTGGTTCCG GTTCCGTCGCGGAGACACGTGAAGGTCGGTGCGGAGTTCGTCTCTGCAAGCTTGGTCGCC CTGGGATGGATTCCTCCTCCTCTTCCTCCGCGGCGGGTTTGGGTGCAGTGGACCCGCAGT TGCAGCATTTCATCGAGGTAGAGACTCAAAAGCAGCGCTTCCAGCAGCTGGTGCACCAGA TGACTGAACTTTGTTGGGTGAGGAGCCTGGGGCTGGGACCTGAACACTGTACCTACTTTC CCTCTGTCCTTGTACCGCGGGACTCGCGACAACGTCGGGGATTCGGGGTGGGGGGCGGGC ACCTGGCAGCAACCCTTGATTTTCTCAGGTTCCTGTGGCCTAGCCGGATGGGAGAAGGGT GACTCCGCTTCTCTGGGGACTGTCATTCCGGACCTCGGCTTTGTTGGTGTAGAGGACTGG GTATCAAAGAAGACTTATGCCACTGGACACCCAGCACTTTCAGGCACCCGAGGTTGAAGC TGCCTAGTGCTGGTCACCAAGACTGATCGGAGCCCCCAGTACTGGGATTTTATTTTTGGC AGCCCGAGTCCCAGAGAGTCAGTGAATCAGTGAATCTGCTATTCCTGGACTCCTCGGGAT TTACCTTCATTACCCAGTTCTAACCCTCTCCGCTGAAAAATGAGTGGCTCCAGCCCAGTA ACTATAAAAGTGGTGTAATCTCTTCCAACGTACATACTTATTTGCTTTCTTGTTGGATTG TTGTGTAATACCAAGCCGTTTTGGGTCTGAAGGTTGAGGAATTGAGCCTGCCCTGTGAGG GGACTTTGGCAAAAGGGTGGAAGGTATTTGCAGCTTGCCAACAACGTGTTCTGCTTGCCA AGGACAGATCTCCCTTAATGTACACAATTCACAGAATTCAGAGGCCAAGGATAATTTTCC TTGGAATTAGAGGGTCTGAGGCTTGTGTACATGGCAGAGAATAATGAACGAAATTTTTGA ACCACTTAACTTGAACTATATACAGTCATTGGTTTCCATAGGCCCTTTCCCATAAACTTA CAGTATTGCTGGACTATGACACCTACCAGATGCTTACTTAACTCTGGTCTGCCTTGGACC AGAGTGCTTTGATTCTTTTTTAAAAATATCTGTGATTCGTTACTTTGGGGCTAGGAGGGC GTGTGGTTAAGTACTATTGCAAGAATCTGTAAGCTGCCCGGCGCGGTGGCTCATGCCTGT AATCCCAGCACTTTGGGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGACCAGTCTG GGCAACACGGCGAAGCCCTGTCTCTACTAAAAATAGAAAAAATTAGCTGGGCGGGGTGGC ACCCGCCTGTAATCCCAGCTACTCAGGAAGCTGAGGCACGAGAATGGCTTGAACCTGGCG GAGGTTACAGTGAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCCAGACTCTGTC TCAAAAAAAAAAAAGAAAAGAAAAGAAAGGAAAAAAAACTGTAAGCTATGATGAACCCCT TAGGAAAATGCATTCAATTTTCCATTCATCATGACAGGATTCAAGAATCTCTAGCTTAAG TAGACAAGGTTATAGAATCTCAAGTCATATTTTTTTTCTTCTTTGGTAGGTTTTAGGGTA CCTTGCTGAAATGATTTATCCTTTCACCCTTTTATTCTGTAGTTAACTTAAAGGCATTTA GTTCAAACAGCATTGTGGAGTTAAAACCAAATTCATTGAAAGGTTACTTCACTTATATTT TGCCATTTTCTTGCTCTGGAATATCCCAGCTCTGCCATTTTCTGGCCCTATGATTTTGGG TAAAGTATCTCTGTGCCACAGTTTTCCTCTTTGTAAAATGAGGATTTATAATAGTATCTA TTCCATAGTATTGTTGTAAGAATTTAATGTAAGGCTAGAGAACATTGCTATATACTTGGT CAGCTGCCAAATGTGAACTATCAGTAACATATCAGATATTATTTTTAGGTAAAGTTTTTT TTTCTCTAAGCAACAAAAAGGGACCCCTGCCCCCAACCGTCTTTTTCTTTCCAAGTTCCC TTTGTGATTCTGTATCTTGTCCTGAGCAGGAGAAGTGCATGGACAAGCCTGGGCCAAAGT TGGACAGTCGGGCTGAGGCCTGTTTTGTGAACTGCGTTGAGCGCTTCATTGATACAAGCC AGTTCATCTTGAATCGACTGGAACAGACCCAGAAATCCAAGCCAGTTTTCTCAGAAAGCC TTTCTGACTGATCTCAGCATTACCTCTTTGGAAAAGGAAGGTAGTTCAAGAAATGAAGAG CTGTTGATGGGATGATTGAAGAAACAGCTATGAGAGGATTGGCTCCCATCTTTTGTTACT CTTGGGACATCCTGTCATCTGAGAATGAACAAAGACCAATTTTTTGTGTGTGAAGCTTAA GGGTCATATGTTTGCTTGTATTTTTTAATGCTAATCTTGTGAAAATAATTGACAGGCGAA AGAAAACTCTATTTAGATGCATATTACTGTACATGGGACTATGCTTTTCTCAAAGCCCCA TTAACTGCTTCCTATAATTTTGATAGTGGGACCACATACGTAAAAATCTCTCATTTGTGT GGAGTCATTTCTGATTTCAGGGGAGATCCTTGTGTTTATCAGAAAGGGCAGAAGTAGGGG AAGAATAATTTGGTATCCTTATCTAGTGTTTGATTGTCAATGCTGGAGAAAAATATCTGT AAGAGTGTTTATACAGTACACTTCAGTTATCTTGATCTCCCTTTCCTATATGATGATTTG CTTAAATATCCATATTAAGTAAGTCTCAAGGTAGGGTAGGCAGCCTGAGAGTCTAGAGGC CTTTAGTTATAAAGGAATCTAGCCAGTGAACATAATTCTTATTACTAGACTGCCACAAGG AAGAAATTAACTTACCCTGTATATCAGGGTACAAAAAATTCAGTGATGTGCCTAAATAAG TTATAAAGATTTAGGCCAATCAGAAGCTAACAGCAGTTTCAGGTAGAGGTGCATGCCTAA TGTTAGTTAGTGTAGATTCCATTTACTGCATTCTTCTGATCACTGAAATAAAAGCTATAT AAGATTCAACTCTG OMIM ID 300356