Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme that in humans is encoded by the TIMM8Agene.[1][2][3]
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.[3]
↑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. doi:10.1006/geno.1999.5966. PMID10552927.
↑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. doi:10.1038/ng1096-177. PMID8841189.
↑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. doi:10.1016/S0006-291X(03)00767-8. ISSN0006-291X. PMID12745081.
↑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. doi:10.1038/msb4100134. PMC1847948. PMID17353931.
↑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. doi:10.1093/hmg/11.5.477. ISSN0964-6906. PMID11875042.
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. doi:10.1001/archneur.58.6.1004. PMID11405816.
Swerdlow RH, Juel VC, Wooten GF (2003). "Dystonia with and without deafness is caused by TIMM8A mutation". Advances in neurology. 94: 147–54. PMID14509668.
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. doi:10.1006/geno.1994.1310. PMID7959728.
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. doi:10.1016/S0014-5793(99)01665-8. PMID10611480.
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. doi:10.1006/bbrc.2000.3004. PMID10873677.
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. doi:10.1038/sj.ejhg.5200483. PMID10878669.
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. doi:10.1074/jbc.M105313200. PMID11489896.
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. doi:10.1002/ana.1160. PMID11601506.
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. doi:10.1076/opge.22.4.207.2220. PMID11803487.
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. doi:10.1093/hmg/11.5.477. PMID11875042.
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. doi:10.1074/jbc.M201154200. PMID11956200.
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. doi:10.1016/S0006-291X(03)00767-8. PMID12745081.
