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2dzj
From Proteopedia
Revision as of 00:24, 30 September 2014 by OCA (Talk | contribs)
2dzj is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
[GPSN2_HUMAN] Defects in TECR are the cause of mental retardation autosomal recessive type 14 (MRT14) [MIM:614020]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.[1]
Function
[GPSN2_HUMAN] Reduces trans-2,3-stearoyl-CoA to stearoyl-CoA of long and very long chain fatty acids.[2]
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
↑ Caliskan 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. 2011 Apr 1;20(7):1285-9. doi: 10.1093/hmg/ddq569. Epub 2011 Jan 6. PMID:21212097 doi:10.1093/hmg/ddq569
↑ Moon YA, Horton JD. Identification of two mammalian reductases involved in the two-carbon fatty acyl elongation cascade. J Biol Chem. 2003 Feb 28;278(9):7335-43. Epub 2002 Dec 13. PMID:12482854 doi:10.1074/jbc.M211684200
