GPT2
Function
Catalyzes the reversible transamination between alanine and 2-oxoglutarate to form pyruvate and glutamate.
Involvement in disease
Neurodevelopmental disorder with spastic paraplegia and microcephaly
NEDSPM
An autosomal recessive syndrome characterized by severe psychomotor developmental delay, dysarthria, walking difficulties, moderately to severely impaired intellectual development, poor or absent speech, and progressive microcephaly.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid degradation; L-alanine degradation via transaminase pathway; pyruvate from L-alanine: step 1/1.
Sequence Similarities
Belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. Alanine aminotransferase subfamily.
Tissue Specificity
Expressed at high levels in muscle, adipose tissue, kidney and brain and at lower levels in the liver and breast.
Alternative names
AAT2, ALT2, GPT2, Alanine aminotransferase 2, Glutamate pyruvate transaminase 2, Glutamic--alanine transaminase 2, Glutamic--pyruvic transaminase 2, GPT 2