TECR

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TECR
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TECR, GPSN2, MRT14, SC2, TER, trans-2,3-enoyl-CoA reductase
External IDs MGI: 1915408 HomoloGene: 36231 GeneCards: TECR
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004868
NM_138501
NM_001321170

NM_027179
NM_134118

RefSeq (protein)

NP_001308099
NP_612510

NP_081455.1
NP_598879.1
NP_081455
NP_598879

Location (UCSC) Chr 19: 14.52 – 14.57 Mb Chr 8: 83.57 – 83.61 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Trans-2,3-enoyl-CoA reductase is an enzyme that in humans is encoded by the TECR gene.[3]

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.[3]

Clinical relevance[edit]

Mutations in this gene have been shown to cause non-syndromic mental retardation.[4]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ a b "Entrez Gene: Trans-2,3-enoyl-CoA reductase". Retrieved 2011-12-30. 
  4. ^ 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 3115579Freely accessible. PMID 21212097. 

Further reading[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.