TECR explained
Trans-2,3-enoyl-CoA reductase is an enzyme that in humans is encoded by the TECR gene.[1]
This gene encodes a multi-pass membrane protein that resides in the endoplasmic reticulum, and belongs to the steroid 5-alpha reductase family. The elongation of microsomal long and very long chain fatty acid consists of 4 sequential reactions. This protein catalyzes the final step, reducing trans-2,3-enoyl-CoA to saturated acyl-CoA. Alternatively spliced transcript variants have been found for this gene.[2]
Clinical relevance
Mutations in this gene have been shown to cause non-syndromic mental retardation.[3]
Further reading
- Moon . Y. -A. . Horton . J. D. . 10.1074/jbc.M211684200 . Identification of Two Mammalian Reductases Involved in the Two-carbon Fatty Acyl Elongation Cascade . Journal of Biological Chemistry . 278 . 9 . 7335–7343 . 2002 . 12482854. free .
- Hashmi . G. . Shariff . T. . Seul . M. . Vissavajjhala . P. . Hue-Roye . K. . Charles-Pierre . D. . Lomas-Francis . C. . Chaudhuri . A. . Reid . M. E. . 10.1111/j.1537-2995.2005.04362.x . A flexible array format for large-scale, rapid blood group DNA typing . Transfusion . 45 . 5 . 680–688 . 2005 . 15847654. 40662473 .
- Lehner . R. . Kuksis . A. . Biosynthesis of triacylglycerols . Progress in Lipid Research . 35 . 2 . 169–201 . 1996 . 8944226 . 10.1016/0163-7827(96)00005-7.
- Mao . M. . Fu . G. . Wu . J. S. . Zhang . Q. H. . Zhou . J. . Kan . L. X. . Huang . Q. H. . He . K. L. . Gu . B. W. . Han . Z. -G. . Shen . Y. . Gu . J. . Yu . Y. -P. . Xu . S. -H. . Wang . Y. -X. . Chen . S. -J. . Chen . Z. . Identification of genes expressed in human CD34+ hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning . Proceedings of the National Academy of Sciences of the United States of America . 95 . 14 . 8175–8180 . 1998 . 9653160 . 20949 . 10.1073/pnas.95.14.8175. 1998PNAS...95.8175M . free .
Notes and References
- Web site: Entrez Gene: Trans-2,3-enoyl-CoA reductase. 2011-12-30 .
- Web site: Entrez Gene: Trans-2,3-enoyl-CoA reductase. 2011-12-30 .
- Çalışkan M, Chong JX, Uricchio L, Anderson R, Chen P, Sougnez C, Garimella K, Gabriel SB, dePristo MA, Shakir K, Matern D, Das S, Waggoner D, Nicolae DL, Ober C . Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13 . Hum. Mol. Genet. . 20 . 7 . 1285–9 . April 2011 . 21212097 . 3115579 . 10.1093/hmg/ddq569 .