AGXT

Involvement in disease

Hyperoxaluria primary 1

HP1

An inborn error of glyoxylate metabolism characterized by increased excretion of oxalate and glycolate, and progressive tissue accumulation of insoluble calcium oxalate. Affected individuals are at risk for nephrolithiasis, nephrocalcinosis and early onset end-stage renal disease.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence similarities

Belongs to the class-V pyridoxal-phosphate-dependent aminotransferase family.

Tissue specificity

Liver.

Cellular localization

• Peroxisome
• Mitochondrion
• Predominantly localized in the peroxisomes. Mitochondrial mistargeting occurs in variant proteins Arg-41, Arg-47, Ile-152, Arg-170 and Thr-244 associated with the disease HP1.

Alternative names

• Serine--pyruvate aminotransferase
• SPT
• Alanine--glyoxylate aminotransferase
• AGT
• AGXT
• SPAT
• AGT1

Database links

• entrezGene:189
• omim:604285
• swissprot:P21549

Target type

Proteins

Molecular weight

43010Da