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Translocase Of Inner Mitochondrial Membrane 8A (TIMM8A)

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DFN1; DDP; MTS; Deafness dystonia protein 1; X-linked deafness dystonia protein; Mitochondrial import inner membrane translocase subunit Tim8 A

Translocase Of Inner Mitochondrial Membrane 8A (TIMM8A)
CCC P582
HGNC 11817
MGI 1353433
PubMed 15254020
RGD 621801
UniProt O60220
Wiki TIMM8A
TIMM8A belongs to a family of evolutionary conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane. Loss-of-function mutations in the TIMM8A gene cause Mohr-Tranebjaerg syndrome (MTS), a progressive neurodegenerative disorder.
The deduced DDP protein contains 97 amino acids and has a molecular mass of about 11 kD. DDP shows ubiquitous expression,with highest levels in fetal and adult brain.The coding region spans both exons. The first exon of the cDNA sequence begins 770 bp downstream from the polyadenylation signal of BTK.

Organism species: Homo sapiens (Human)

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Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Translocase Of Inner Mitochondrial Membrane 8A (TIMM8A) Recombinant Protein Customized Service Offer
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Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
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Antibodies n/a Monoclonal Antibody to Translocase Of Inner Mitochondrial Membrane 8A (TIMM8A) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Translocase Of Inner Mitochondrial Membrane 8A (TIMM8A) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Translocase Of Inner Mitochondrial Membrane 8A (TIMM8A) CLIA Kit Customized Service Offer
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  1. "A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness."Nat. Genet. 14:177-180(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Human deafness dystonia syndrome is a mitochondrial disease."Proc. Natl. Acad. Sci. U.S.A. 96:2141-2146(1999) [PubMed] [Europe PMC] [Abstract]
  6. "Mitochondria and dystonia: the movement disorder connection?"Proc. Natl. Acad. Sci. U.S.A. 96:1817-1819(1999) [PubMed] [Europe PMC] [Abstract]
  7. "Role of the deafness dystonia peptide 1 (DDP1) in import of human Tim23 into the inner membrane of mitochondria."J. Biol. Chem. 276:37327-37334(2001) [PubMed] [Europe PMC] [Abstract]
  8. "The calcium-binding aspartate/glutamate carriers, citrin and aralar1, are new substrates for the DDP1/TIMM8a-TIMM13 complex."Hum. Mol. Genet. 13:2101-2111(2004) [PubMed] [Europe PMC] [Abstract]
  9. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  10. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  11. "System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
  12. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  13. "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. 8:464-467(2000) [PubMed] [Europe PMC] [Abstract]
  14. "Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex."Hum. Mol. Genet. 11:477-486(2002) [PubMed] [Europe PMC] [Abstract]
  15. "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. 277:23287-23293(2002) [PubMed] [Europe PMC] [Abstract]