TIMM8A
| TIMM8A |
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| Identifiers |
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| Aliases | TIMM8A, DDP, DDP1, DFN1, MTS, TIM8, translocase of inner mitochondrial membrane 8 homolog A (yeast), translocase of inner mitochondrial membrane 8A |
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| External IDs | MGI: 1353433 HomoloGene: 37878 GeneCards: TIMM8A |
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| Gene location (Human) |
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 | | Chr. | X chromosome (human)[1] |
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| | Band | No data available | Start | 101,345,661 bp[1] |
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| End | 101,349,196 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | X chromosome (mouse)[2] |
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| | Band | No data available | Start | 134,537,256 bp[2] |
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| End | 134,541,865 bp[2] |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr X: 101.35 – 101.35 Mb | Chr X: 134.54 – 134.54 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
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Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme that in humans is encoded by the TIMM8A gene.[5][6][7]
This translocase has similarity to yeast mitochondrial proteins that are involved in the import of metabolite transporters from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Deafness-dystonia syndrome (or Mohr-Tranebjaerg syndrome; MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.[7]
Alternative names
- Deafness-dystonia peptide
- Deafness-dystonia protein
Interactions
TIMM8A has been shown to interact with Signal transducing adaptor molecule[8] and TIMM13.[9][10]
References
- 1 2 3 GRCh38: Ensembl release 89: ENSG00000126953 - Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000048007 - Ensembl, May 2017
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Jin H, Kendall E, Freeman TC, Roberts RG, Vetrie DL (Feb 2000). "The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins". Genomics. 61 (3): 259–67. PMID 10552927. doi:10.1006/geno.1999.5966.
- ↑ Jin H, May M, Tranebjaerg L, Kendall E, Fontan G, Jackson J, Subramony SH, Arena F, Lubs H, Smith S, Stevenson R, Schwartz C, Vetrie D (Nov 1996). "A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness". Nat Genet. 14 (2): 177–80. PMID 8841189. doi:10.1038/ng1096-177.
- 1 2 "Entrez Gene: TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)".
- ↑ Blackstone C, Roberts RG, Seeburg DP, Sheng M (2003). "Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1". Biochem. Biophys. Res. Commun. United States. 305 (2): 345–52. ISSN 0006-291X. PMID 12745081. doi:10.1016/S0006-291X(03)00767-8.
- ↑ Ewing RM, Chu P, Elisma F, Li H, Taylor P, Climie S, McBroom-Cerajewski L, Robinson MD, O'Connor L, Li M, Taylor R, Dharsee M, Ho Y, Heilbut A, Moore L, Zhang S, Ornatsky O, Bukhman YV, Ethier M, Sheng Y, Vasilescu J, Abu-Farha M, Lambert JP, Duewel HS, Stewart II, Kuehl B, Hogue K, Colwill K, Gladwish K, Muskat B, Kinach R, Adams SL, Moran MF, Morin GB, Topaloglou T, Figeys D (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. England. 3 (1): 89. PMC 1847948
. PMID 17353931. doi:10.1038/msb4100134. - ↑ Roesch K, Curran SP, Tranebjaerg L, Koehler CM (Mar 2002). "Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex". Hum. Mol. Genet. England. 11 (5): 477–86. ISSN 0964-6906. PMID 11875042. doi:10.1093/hmg/11.5.477.
Further reading
- Ujike H, Tanabe Y, Takehisa Y, et al. (2001). "A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene.". Arch. Neurol. 58 (6): 1004–7. PMID 11405816. doi:10.1001/archneur.58.6.1004.
- Swerdlow RH, Juel VC, Wooten GF (2003). "Dystonia with and without deafness is caused by TIMM8A mutation.". Advances in neurology. 94: 147–54. PMID 14509668.
- Tranebjaerg L, Schwartz C, Eriksen H, et al. (1995). "A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22.". J. Med. Genet. 32 (4): 257–63. PMC 1050371 . PMID 7643352. doi:10.1136/jmg.32.4.257.
- Vorechovský I, Vetrie D, Holland J, et al. (1994). "Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22.". Genomics. 21 (3): 517–24. PMID 7959728. doi:10.1006/geno.1994.1310.
- Wallace DC, Murdock DG (1999). "Mitochondria and dystonia: the movement disorder connection?". Proc. Natl. Acad. Sci. U.S.A. 96 (5): 1817–9. PMC 33525 . PMID 10051550. doi:10.1073/pnas.96.5.1817.
- Koehler CM, Leuenberger D, Merchant S, et al. (1999). "Human deafness dystonia syndrome is a mitochondrial disease.". Proc. Natl. Acad. Sci. U.S.A. 96 (5): 2141–6. PMC 26750 . PMID 10051608. doi:10.1073/pnas.96.5.2141.
- Bauer MF, Rothbauer U, Mühlenbein N, et al. (2000). "The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom.". FEBS Lett. 464 (1-2): 41–7. PMID 10611480. doi:10.1016/S0014-5793(99)01665-8.
- Nakane T, Inada Y, Ito F, et al. (2000). "Cloning and expression of mouse deafness dystonia peptide 1 cDNA.". Biochem. Biophys. Res. Commun. 273 (2): 759–64. PMID 10873677. doi:10.1006/bbrc.2000.3004.
- Tranebjaerg L, Hamel BC, Gabreels FJ, et al. (2000). "A de novo missense mutation in a critical domain of the X-linked DDP gene causes the typical deafness-dystonia-optic atrophy syndrome.". Eur. J. Hum. Genet. 8 (6): 464–7. PMID 10878669. doi:10.1038/sj.ejhg.5200483.
- Paschen SA, Rothbauer U, Káldi K, et al. (2001). "The role of the TIM8-13 complex in the import of Tim23 into mitochondria.". EMBO J. 19 (23): 6392–400. PMC 305865 . PMID 11101512. doi:10.1093/emboj/19.23.6392.
- Rothbauer U, Hofmann S, Mühlenbein N, et al. (2001). "Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria.". J. Biol. Chem. 276 (40): 37327–34. PMID 11489896. doi:10.1074/jbc.M105313200.
- Swerdlow RH, Wooten GF (2001). "A novel deafness/dystonia peptide gene mutation that causes dystonia in female carriers of Mohr-Tranebjaerg syndrome.". Ann. Neurol. 50 (4): 537–40. PMID 11601506. doi:10.1002/ana.1160.
- Tranebjaerg L, Jensen PK, Van Ghelue M, et al. (2002). "Neuronal cell death in the visual cortex is a prominent feature of the X-linked recessive mitochondrial deafness-dystonia syndrome caused by mutations in the TIMM8a gene.". Ophthalmic Genet. 22 (4): 207–23. PMID 11803487. doi:10.1076/opge.22.4.207.2220.
- Roesch K, Curran SP, Tranebjaerg L, Koehler CM (2002). "Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex.". Hum. Mol. Genet. 11 (5): 477–86. PMID 11875042. doi:10.1093/hmg/11.5.477.
- Hofmann S, Rothbauer U, Mühlenbein N, et al. (2002). "The C66W mutation in the deafness dystonia peptide 1 (DDP1) affects the formation of functional DDP1.TIM13 complexes in the mitochondrial intermembrane space.". J. Biol. Chem. 277 (26): 23287–93. PMID 11956200. doi:10.1074/jbc.M201154200.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. PMC 139241 . PMID 12477932. doi:10.1073/pnas.242603899.
- Blackstone C, Roberts RG, Seeburg DP, Sheng M (2003). "Interaction of the deafness-dystonia protein DDP/TIMM8a with the signal transduction adaptor molecule STAM1.". Biochem. Biophys. Res. Commun. 305 (2): 345–52. PMID 12745081. doi:10.1016/S0006-291X(03)00767-8.
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