Glutamic--pyruvic transaminase 2
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Glutamic--pyruvic transaminase 2 is a protein that in humans is encoded by the GPT2 gene. [5]
Function
This gene encodes a mitochondrial
glutamate. Alanine transaminases play roles in gluconeogenesis and amino acid metabolism in many tissues including skeletal muscle, kidney, and liver. Activating transcription factor 4 upregulates this gene under metabolic stress conditions in hepatocyte cell lines. A loss of function mutation in this gene has been associated with developmental encephalopathy
. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015].
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000166123 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031700 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: Glutamic--pyruvic transaminase 2". Retrieved 2018-05-07.
Further reading
- Yang RZ, Blaileanu G, Hansen BC, Shuldiner AR, Gong DW (March 2002). "cDNA cloning, genomic structure, chromosomal mapping, and functional expression of a novel human alanine aminotransferase". Genomics. 79 (3): 445–50. PMID 11863375.
- Ding Y, Zhao L, Mei H, Huang ZH, Zhang SL (November 2006). "Alterations of biliary biochemical constituents and cytokines in infantile hepatitis syndrome". World J. Gastroenterol. 12 (43): 7038–41. PMID 17109502.
- Fraser A, Ebrahim S, Smith GD, Lawlor DA (July 2007). "A comparison of associations of alanine aminotransferase and gamma-glutamyltransferase with fasting glucose, fasting insulin, and glycated hemoglobin in women with and without diabetes". Hepatology. 46 (1): 158–65. S2CID 12779974.
- Glinghammar B, Rafter I, Lindström AK, Hedberg JJ, Andersson HB, Lindblom P, Berg AL, Cotgreave I (May 2009). "Detection of the mitochondrial and catalytically active alanine aminotransferase in human tissues and plasma". Int. J. Mol. Med. 23 (5): 621–31. PMID 19360321.
- Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ (September 2010). "Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression". PLOS ONE. 5 (9): e12862. PMID 20877624.
- Salgado MC, Metón I, Anemaet IG, Baanante IV (2014). "Activating transcription factor 4 mediates up-regulation of alanine aminotransferase 2 gene expression under metabolic stress". Biochim. Biophys. Acta. 1839 (4): 288–96. PMID 24418603.
- Celis K, Shuldiner S, Haverfield EV, Cappell J, Yang R, Gong DW, Chung WK (September 2015). "Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy". J. Inherit. Metab. Dis. 38 (5): 941–8. PMID 25758935.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.