ETHE1

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Ethylmalonic encephalopathy 1
Identifiers
Symbols ETHE1 ; HSCO; YF13H12
External IDs Template:OMIM5 Template:MGI HomoloGene8622
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Ethylmalonic encephalopathy 1, also known as ETHE1, is a human gene.[1]

This gene encodes a protein that is expressed in the thyroid.[1]

References

  1. 1.0 1.1 "Entrez Gene: ETHE1 ethylmalonic encephalopathy 1".

Further reading

  • McCoy JG, Bingman CA, Bitto E; et al. (2007). "Structure of an ETHE1-like protein from Arabidopsis thaliana". Acta Crystallogr. D Biol. Crystallogr. 62 (Pt 9): 964–70. doi:10.1107/S0907444906020592. PMID 16929096.
  • Mehrle A, Rosenfelder H, Schupp I; et al. (2006). "The LIFEdb database in 2006". Nucleic Acids Res. 34 (Database issue): D415–8. doi:10.1093/nar/gkj139. PMID 16381901.
  • Rual JF, Venkatesan K, Hao T; et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. doi:10.1038/nature04209. PMID 16189514.
  • Tiranti V, Briem E, Lamantea E; et al. (2006). "ETHE1 mutations are specific to ethylmalonic encephalopathy". J. Med. Genet. 43 (4): 340–6. doi:10.1136/jmg.2005.036210. PMID 16183799.
  • Wiemann S, Arlt D, Huber W; et al. (2004). "From ORFeome to biology: a functional genomics pipeline". Genome Res. 14 (10B): 2136–44. doi:10.1101/gr.2576704. PMID 15489336.
  • Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
  • Grimwood J, Gordon LA, Olsen A; et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. doi:10.1038/nature02399. PMID 15057824.
  • Tiranti V, D'Adamo P, Briem E; et al. (2004). "Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein". Am. J. Hum. Genet. 74 (2): 239–52. PMID 14732903.
  • 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.
  • Higashitsuji H, Higashitsuji H, Nagao T; et al. (2003). "A novel protein overexpressed in hepatoma accelerates export of NF-kappa B from the nucleus and inhibits p53-dependent apoptosis". Cancer Cell. 2 (4): 335–46. PMID 12398897.
  • Simpson JC, Wellenreuther R, Poustka A; et al. (2001). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Rep. 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMID 11256614.
  • Hartley JL, Temple GF, Brasch MA (2001). "DNA cloning using in vitro site-specific recombination". Genome Res. 10 (11): 1788–95. PMID 11076863.

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