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Gene Review

Amacr  -  alpha-methylacyl-CoA racemase

Mus musculus

Synonyms: 2-arylpropionyl-CoA epimerase, 2-methylacyl-CoA racemase, Alpha-methylacyl-CoA racemase, Macr1
 
 
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High impact information on Amacr

  • Based upon our mouse model, we propose elimination of phytol from the diet of patients suffering from Amacr deficiency [1].
  • The disorder is recessively inherited and caused by mutations in the AMACR gene, which encodes Amacr, an enzyme presumed to be essential for bile acid synthesis and to participate in the degradation of methyl-branched fatty acids [1].
 

Analytical, diagnostic and therapeutic context of Amacr

  • Real-time quantitative PCR analysis showed that, among other responses, the level of mRNA for peroxisomal multifunctional enzyme type 1 (pMFE-1) was increased 3-fold in Amacr(-/-) mice [1].

References

  1. A mouse model for alpha-methylacyl-CoA racemase deficiency: adjustment of bile acid synthesis and intolerance to dietary methyl-branched lipids. Savolainen, K., Kotti, T.J., Schmitz, W., Savolainen, T.I., Sormunen, R.T., Ilves, M., Vainio, S.J., Conzelmann, E., Hiltunen, J.K. Hum. Mol. Genet. (2004) [Pubmed]
 
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