TIMM8A

From Wikipedia, the free encyclopedia

Translocase of inner mitochondrial membrane 8 homolog A (yeast)

Identifiers

TIMM8A; DDP; DDP1; DFN1; MGC12262; MTS

External IDs

OMIM: 300356 MGI: 1353433 HomoloGene: 37878

Gene ontology
Molecular Function:	• zinc ion binding • metal ion binding
Cellular Component:	• mitochondrion • membrane • mitochondrial intermembrane space protein transporter complex
Biological Process:	• protein folding • nervous system development • sensory perception of sound • protein transport • protein import into mitochondrial inner membrane

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004085 (mRNA)
NP_004076 (protein)

NM_013898 (mRNA)
NP_038926 (protein)

Location

Chr X: 100.49 - 100.49 Mb

Chr 10: 11.3 - 11.3 Mb

Pubmed search

[1]

[2]

Translocase of inner mitochondrial membrane 8 homolog A (yeast), also known as TIMM8A, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast).

[edit] 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.
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. PMID 7643352.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.