TECR

Last updated
TECR
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases TECR , GPSN2, MRT14, SC2, TER, trans-2,3-enoyl-CoA reductase
External IDs OMIM: 610057; MGI: 1915408; HomoloGene: 36231; GeneCards: TECR; OMA:TECR - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004868
NM_138501
NM_001321170

NM_027179
NM_134118

RefSeq (protein)

NP_001308099
NP_612510

NP_081455
NP_598879

Location (UCSC) Chr 19: 14.52 – 14.57 Mb Chr 8: 84.3 – 84.33 Mb
PubMed search [3] [4]
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. [5]

Contents

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. [5]

Clinical relevance

Mutations in this gene have been shown to cause non-syndromic mental retardation. [6]

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000099797 Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000031708 Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: Trans-2,3-enoyl-CoA reductase" . Retrieved 2011-12-30.
  6. 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

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