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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

MCCD1  -  mitochondrial coiled-coil domain 1

Homo sapiens

Synonyms: Mitochondrial coiled-coil domain protein 1
 
 
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Psychiatry related information on MCCD1

  • We elaborated the rationale for decision making in 3-methylcrotonyl-coenzyme A (CoA) carboxylase deficiency (MCCD), which afflicts leucine catabolism, with reported outcomes ranging from asymptomatic to death [1].
 

High impact information on MCCD1

  • Finally, we characterised the polymorphism in this gene using denaturing high-performance liquid chromatography (DHPLC) analysis and found that the MCCD1 gene is highly polymorphic containing an average of 1 single nucleotide polymorphism (SNP) every 99 bp [2].
  • Interestingly, MCCD1 contains four SNPs within the coding region, three of which cause nonsynonymous and nonconservative changes in the amino acid sequence [2].
  • Transient expression in mammalian cells of MCCD1 fused at its C terminus to either EGFP or the T7-epitope tag showed that this protein is indeed targeted to mitochondria [2].
  • MCCD is a genetic condition with low clinical expressivity and penetrance [1].

References

  1. Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. Stadler, S.C., Polanetz, R., Maier, E.M., Heidenreich, S.C., Niederer, B., Mayerhofer, P.U., Lagler, F., Koch, H.G., Santer, R., Fletcher, J.M., Ranieri, E., Das, A.M., Spiekerkötter, U., Schwab, K.O., Pötzsch, S., Marquardt, I., Hennermann, J.B., Knerr, I., Mercimek-Mahmutoglu, S., Kohlschmidt, N., Liebl, B., Fingerhut, R., Olgemöller, B., Muntau, A.C., Roscher, A.A., Röschinger, W. Hum. Mutat. (2006) [Pubmed]
  2. A novel gene encoding a coiled-coil mitochondrial protein located at the telomeric end of the human MHC Class III region. Semple, J.I., Ribas, G., Hillyard, G., Brown, S.E., Sanderson, C.M., Campbell, R.D. Gene (2003) [Pubmed]
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