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Gene Review

LETM1  -  leucine zipper-EF-hand containing...

Homo sapiens

Synonyms: LETM1 and EF-hand domain-containing protein 1, mitochondrial, Leucine zipper-EF-hand-containing transmembrane protein 1
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Disease relevance of LETM1


High impact information on LETM1

  • Among the candidate genes already described for WHS, LETM1 (leucine zipper/EF-hand-containing transmembrane) is likely to be pathogenetically involved in seizures [3].
  • This mutant phenotype is complemented by the expression of the human LETM1 gene in yeast, indicating a functional conservation of LetM1/Yol027 proteins from yeast to man [4].
  • The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome [4].
  • Using LETM1-EGFP fusion constructs and an anti-rat LetM1 polyclonal antibody we have demonstrated that LETM1 is located in the mitochondria [1].
  • LETM1 encodes a putative member of the EF-hand family of Ca(2+)-binding proteins [5].

Anatomical context of LETM1


Associations of LETM1 with chemical compounds

  • On the basis of its possible Ca(2+)-binding property and involvement in Ca(2+) signaling and/or homeostasis, we propose that haploinsufficiency of LETM1 may contribute to the neuromuscular features of WHS patients [5].

Regulatory relationships of LETM1

  • LETM1 was co-precipitated with BCS1L and formation of the LETM1 complex depended on BCS1L levels, suggesting that BCS1L stimulates the assembly of the LETM1 complex [7].

Other interactions of LETM1

  • The deletion encompasses 191.5 kb and includes WHSC2, but not LETM1 [8].
  • Thus, manifestations attributable to this deletion are reduced weight for height, minor facial anomalies, ADHD and some learning and fine motor deficiencies, while seizures may be associated with deletions of LETM1 [8].


  1. LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein. Schlickum, S., Moghekar, A., Simpson, J.C., Steglich, C., O'Brien, R.J., Winterpacht, A., Endele, S.U. Genomics (2004) [Pubmed]
  2. Neuromyelitis optica IgG predicts relapse after longitudinally extensive transverse myelitis. Weinshenker, B.G., Wingerchuk, D.M., Vukusic, S., Linbo, L., Pittock, S.J., Lucchinetti, C.F., Lennon, V.A. Ann. Neurol. (2006) [Pubmed]
  3. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Zollino, M., Lecce, R., Fischetto, R., Murdolo, M., Faravelli, F., Selicorni, A., Buttè, C., Memo, L., Capovilla, G., Neri, G. Am. J. Hum. Genet. (2003) [Pubmed]
  4. The LETM1/YOL027 gene family encodes a factor of the mitochondrial K+ homeostasis with a potential role in the Wolf-Hirschhorn syndrome. Nowikovsky, K., Froschauer, E.M., Zsurka, G., Samaj, J., Reipert, S., Kolisek, M., Wiesenberger, G., Schweyen, R.J. J. Biol. Chem. (2004) [Pubmed]
  5. LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients. Endele, S., Fuhry, M., Pak, S.J., Zabel, B.U., Winterpacht, A. Genomics (1999) [Pubmed]
  6. Electroneutral K+/H+ exchange in mitochondrial membrane vesicles involves Yol027/Letm1 proteins. Froschauer, E., Nowikovsky, K., Schweyen, R.J. Biochim. Biophys. Acta (2005) [Pubmed]
  7. Characterization of the mitochondrial protein LETM1, which maintains the mitochondrial tubular shapes and interacts with the AAA-ATPase BCS1L. Tamai, S., Iida, H., Yokota, S., Sayano, T., Kiguchiya, S., Ishihara, N., Hayashi, J., Mihara, K., Oka, T. J. Cell. Sci. (2008) [Pubmed]
  8. First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation. Rauch, A., Schellmoser, S., Kraus, C., Dörr, H.G., Trautmann, U., Altherr, M.R., Pfeiffer, R.A., Reis, A. Am. J. Med. Genet. (2001) [Pubmed]
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