Anti-GPT2 Antibody Picoband® APC Conjugated

This gene encodes a mitochondrial alanine transaminase, a pyridoxal enzyme that catalyzes the reversible transamination between alanine and 2-oxoglutarate to generate pyruvate and 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.

GPT2; AAT2; ALT2; Alanine aminotransferase 2; ALT2; EC 2.6.1.2; Glutamate pyruvate transaminase 2; GPT 2; Glutamic--alanine transaminase 2; Glutamic--pyruvic transaminase 2

1. Celis, K., Shuldiner, S., Haverfield, E. V., Cappell, J., Yang, R., Gong, D.-W., Chung, W. K. Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy. J. Inherit. Metab. Dis. 38: 941-948, 2015. 2. Hengel, H., Keimer, R., Deigendesch, W., Riess, A., Marzouqa, H., Zaidan, J., Bauer, P., Schols, L. GPT2 mutations cause developmental encephalopathy with microcephaly and features of complicated hereditary spastic paraplegia. Clin. Genet. 94: 356-361, 2018. 3. Kaymakcalan, H., Yarman, Y., Goc, N., Toy, F., Meral, C., Ercan-Sencicek, A. G., Gunel, M. Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. Am. J. Med. Genet. 176A: 421-425, 2018.