TIMM8A

Translocase of inner mitochondrial membrane 8 homolog A (yeast)
Identifiers
Symbols	TIMM8A ; DDP; DDP1; DFN1; MGC12262; MTS
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37878
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE TIMM8A 205217 at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Translocase of inner mitochondrial membrane 8 homolog A (yeast), also known as TIMM8A, is a human gene.

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 (MTS/DFN-1) and it is postulated that MTS/DFN-1 is a mitochondrial disease caused by a defective mitochondrial protein import system.

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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 7643352.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jin H, May M, Tranebjaerg L; et al. (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. PMID 8841189.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wallace DC, Murdock DG (1999). "Mitochondria and dystonia: the movement disorder connection?". Proc. Natl. Acad. Sci. U.S.A. 96 (5): 1817–9. PMID 10051550.
• 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. PMID 10051608.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jin H, Kendall E, Freeman TC; et al. (2000). "The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins". Genomics. 61 (3): 259–67. doi:10.1006/geno.1999.5966. PMID 10552927.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10873677.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10878669.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1093/emboj/19.23.6392. PMID 11101512.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 11489896.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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. PMID 11956200.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)