TECR
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.[1]
Clinical relevance
Clinical relevance
Mutations in this gene have been shown to cause non-syndromic mental retardation.[2]
References
References
- ↑ 1.0 1.1 “Entrez Gene: Trans-2,3-enoyl-CoA reductase”. Retrieved 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 (April 2011). “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. doi:10.1093/hmg/ddq569. PMC 3115579. PMID 21212097.
Further reading
Further reading
- Moon, Y. -A.; Horton, J. D. (2002). “Identification of Two Mammalian Reductases Involved in the Two-carbon Fatty Acyl Elongation Cascade”. Journal of Biological Chemistry. 278 (9): 7335–7343. doi:10.1074/jbc.M211684200. PMID 12482854.
- Hashmi, G.; Shariff, T.; Seul, M.; Vissavajjhala, P.; Hue-Roye, K.; Charles-Pierre, D.; Lomas-Francis, C.; Chaudhuri, A.; Reid, M. E. (2005). “A flexible array format for large-scale, rapid blood group DNA typing”. Transfusion. 45 (5): 680–688. doi:10.1111/j.1537-2995.2005.04362.x. PMID 15847654.
- Lehner, R.; Kuksis, A. (1996). “Biosynthesis of triacylglycerols”. Progress in Lipid Research. 35 (2): 169–201. doi:10.1016/0163-7827(96)00005-7. PMID 8944226.
- 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. (1998). “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. doi:10.1073/pnas.95.14.8175. PMC 20949. PMID 9653160.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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