TECR

Trans-2,3-enoyl-CoA reductase is an enzyme that in humans is encoded by the TECR gene.[5]

TECR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesTECR, GPSN2, MRT14, SC2, TER, trans-2,3-enoyl-CoA reductase
External IDsOMIM: 610057 MGI: 1915408 HomoloGene: 36231 GeneCards: TECR
Orthologs
SpeciesHumanMouse
Entrez

9524

106529

Ensembl

ENSG00000099797

ENSMUSG00000031708

UniProt

Q9NZ01

Q9CY27

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 MbChr 8: 84.3 – 84.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. GRCh38: Ensembl release 89: ENSG00000099797 - Ensembl, May 2017
  2. 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. "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.


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.