Health Dictionary
Reliable, easy-to-read patient information on common medical conditions β written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
TECR
Introduction
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
- β 1.0 1.1 “Entrez Gene: Trans-2,3-enoyl-CoA reductase”. Retrieved 2011-12-30.
- β ΓalΔ±Εkan 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): 1285β9. doi:10.1093/hmg/ddq569. PMCΒ 3115579. PMIDΒ 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): 7335β7343. doi:10.1074/jbc.M211684200. PMIDΒ 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): 680β688. doi:10.1111/j.1537-2995.2005.04362.x. PMIDΒ 15847654.
- Lehner, R.; Kuksis, A. (1996). “Biosynthesis of triacylglycerols”. Progress in Lipid Research. 35 (2): 169β201. doi:10.1016/0163-7827(96)00005-7. PMIDΒ 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): 8175β8180. doi:10.1073/pnas.95.14.8175. PMCΒ 20949. PMIDΒ 9653160.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.