TIMM8B

Summary

Gene Symbol: TIMM8B
Description: translocase of inner mitochondrial membrane 8 homolog B
Alias: DDP2, TIM8B, mitochondrial import inner membrane translocase subunit Tim8 B, DDP-like protein, deafness dystonia protein 2
Species: human
Products:     TIMM8B

Top Publications

  1. Hoekstra A, van den Ende B, Julià X, van Breemen L, Scheurwater K, Tops C, et al. Simple and rapid characterization of novel large germline deletions in SDHB, SDHC and SDHD-related paraganglioma. Clin Genet. 2017;91:536-544 pubmed publisher
    ..In six patients proximal genes were also deleted, including PADI2, MFAP2, ATP13A2 (PARK9), CFAP126, TIMM8B and C11orf57. These genes were either partially or completely deleted, but did not modify the phenotype...
  2. Jin H, Kendall E, Freeman T, Roberts R, Vetrie D. The human family of Deafness/Dystonia peptide (DDP) related mitochondrial import proteins. Genomics. 1999;61:259-67 pubmed
    ..We also describe the expression patterns and chromosomal locations of their genes, which are candidate loci for autosomal recessive neurodegenerative disorders. ..
  3. Bauer M, Rothbauer U, Mühlenbein N, Smith R, Gerbitz K, Neupert W, et al. The mitochondrial TIM22 preprotein translocase is highly conserved throughout the eukaryotic kingdom. FEBS Lett. 1999;464:41-7 pubmed
    ..We report the identification, chromosomal localization and expressional analysis of six human family members which represent further candidate genes for neurodegenerative diseases. ..
  4. Webb C, Gorman M, Lazarou M, Ryan M, Gulbis J. Crystal structure of the mitochondrial chaperone TIM9.10 reveals a six-bladed alpha-propeller. Mol Cell. 2006;21:123-33 pubmed
    ..10 as surrogate lipid contacts. The first reported crystal structure of a mitochondrial translocase assembly provides insights into selectivity and regulation of precursor import. ..

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