TIMM8A

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TIMM8A
Identifiers
Aliases TIMM8A, DDP, DDP1, DFN1, MTS, TIM8, translocase of inner mitochondrial membrane 8 homolog A (yeast), translocase of inner mitochondrial membrane 8A
External IDs MGI: 1353433 HomoloGene: 37878 GeneCards: TIMM8A
RNA expression pattern
PBB GE TIMM8A 205217 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_032696
NM_001145951
NM_004085

NM_013898

RefSeq (protein)

NP_001139423
NP_004076

NP_038926.1
NP_038926

Location (UCSC) Chr X: 101.35 – 101.35 Mb Chr X: 134.54 – 134.54 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Mitochondrial import inner membrane translocase subunit Tim8 A is an enzyme that in humans is encoded by the TIMM8A gene.[3][4][5]

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.[5]

Alternative names[edit]

  • Deafness-dystonia peptide
  • Deafness-dystonia protein

Interactions[edit]

TIMM8A has been shown to interact with Signal transducing adaptor molecule[6] and TIMM13.[7][8]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  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. PMID 10552927. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)". 
  6. ^ 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. ISSN 0006-291X. PMID 12745081. 
  7. ^ 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. PMC 1847948Freely accessible. PMID 17353931. 
  8. ^ 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. ISSN 0964-6906. PMID 11875042. 

Further reading[edit]

External links[edit]