TIMM8A


TIMM8A
Translocase of inner mitochondrial membrane 8 homolog A (yeast)
Identifiers
Symbols TIMM8A; DDP; DDP1; DFN1; MGC12262; MTS; TIM8
External IDs OMIM300356 MGI1353433 HomoloGene37878 GeneCards: TIMM8A Gene
RNA expression pattern
PBB GE TIMM8A 205217 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1678 30058
Ensembl ENSG00000126953 ENSMUSG00000045455
UniProt O60220 Q9WVA2
RefSeq (mRNA) NM_001145951.1 NM_013898.2
RefSeq (protein) NP_001139423.1 NP_038926.1
Location (UCSC) Chr X:
100.6 – 100.6 Mb
Chr 10:
11.3 – 11.3 Mb
PubMed search [1] [2]

Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme that in humans is encoded by the TIMM8A gene.[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]

Contents

Alternative names

  • Deafness-dystonia peptide
  • Deafness-dystonia protein

Interactions

TIMM8A has been shown to interact with Signal transducing adaptor molecule[4] and TIMM13.[5][6]

References

  1. ^ 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. PMID 10552927. 
  2. ^ 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. PMID 8841189. 
  3. ^ a b "Entrez Gene: TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1678. 
  4. ^ Blackstone, Craig; Roberts Roland G, Seeburg Daniel P, Sheng Morgan (May. 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. ISSN 0006-291X. PMID 12745081. 
  5. ^ Ewing, Rob M; Chu Peter, Elisma Fred, Li Hongyan, Taylor Paul, Climie Shane, McBroom-Cerajewski Linda, Robinson Mark D, O'Connor Liam, Li Michael, Taylor Rod, Dharsee Moyez, Ho Yuen, Heilbut Adrian, Moore Lynda, Zhang Shudong, Ornatsky Olga, Bukhman Yury V, Ethier Martin, Sheng Yinglun, Vasilescu Julian, Abu-Farha Mohamed, Lambert Jean-Philippe, Duewel Henry S, Stewart Ian I, Kuehl Bonnie, Hogue Kelly, Colwill Karen, Gladwish Katharine, Muskat Brenda, Kinach Robert, Adams Sally-Lin, Moran Michael F, Morin Gregg B, Topaloglou Thodoros, Figeys Daniel (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. (England) 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1847948. 
  6. ^ Roesch, Karin; Curran Sean P, Tranebjaerg Lisbeth, Koehler Carla M (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. ISSN 0964-6906. PMID 11875042. 

Further reading

External links




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