- Source: AGXT
Serine—pyruvate aminotransferase is an enzyme that in humans is encoded by the AGXT gene.
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.
See also
Peroxisomal disorder
References
External links
GeneReviews/NIH/NCBI/UW entry on Primary Hyperoxaluria Type 1
Human AGT genome location and AGT gene details page in the UCSC Genome Browser.
Human AGXT genome location and AGXT gene details page in the UCSC Genome Browser.
Further reading
Kata Kunci Pencarian:
- Daftar gen penyandi protein pada manusia/1
- AGXT
- Hyperoxaluria
- Chromosome 2
- Primary hyperoxaluria
- Uniporter
- Peroxisomal disorder
- List of genetic disorders
- AGX
- Lumasiran
- List of human protein-coding genes 1
