AGXT

Serine—pyruvate aminotransferase is an enzyme that in humans is encoded by the AGXT gene.[5][6][7]

AGXT
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesAGXT, AGT, AGT1, AGXT1, PH1, SPAT, SPT, TLH6, alanine-glyoxylate aminotransferase, alanine--glyoxylate and serine--pyruvate aminotransferase
External IDsOMIM: 604285 MGI: 1329033 HomoloGene: 37251 GeneCards: AGXT
EC number2.6.1.44
Gene location (Human)
Chr.Chromosome 2 (human)[1]
Band2q37.3Start240,868,824 bp[1]
End240,880,502 bp[1]
RNA expression pattern




More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

189

11611

Ensembl

ENSG00000172482

ENSMUSG00000026272

UniProt

P21549

O35423

RefSeq (mRNA)

NM_000030

NM_001276710
NM_016702

RefSeq (protein)

NP_000021

NP_001263639
NP_057911

Location (UCSC)Chr 2: 240.87 – 240.88 MbChr 1: 93.14 – 93.15 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

This gene is expressed only in the liver and the encoded protein is localized mostly in the peroxisomes, where it is involved in glyoxylate detoxification. Mutations in this gene, some of which alter subcellular targeting, have been associated with type I primary hyperoxaluria.[7]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000172482 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026272 - 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. Nishiyama K, Funai T, Katafuchi R, Hattori F, Onoyama K, Ichiyama A (Jul 1991). "Primary hyperoxaluria type I due to a point mutation of T to C in the coding region of the serine:pyruvate aminotransferase gene". Biochem Biophys Res Commun. 176 (3): 1093–9. doi:10.1016/0006-291X(91)90396-O. PMID 2039493.
  6. Purdue PE, Lumb MJ, Fox M, Griffo G, Hamon-Benais C, Povey S, Danpure CJ (Jul 1991). "Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase". Genomics. 10 (1): 34–42. doi:10.1016/0888-7543(91)90481-S. PMID 2045108.
  7. "Entrez Gene: AGXT alanine-glyoxylate aminotransferase (oxalosis I; hyperoxaluria I; glycolicaciduria; serine-pyruvate aminotransferase)".

Further reading



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