Human TPI: Into the Multiverse

3D Model

The TPI enzyme, in humans, is encoded by the TPI1 gene, located on chromosome 12. It exists as a homodimer, meaning that it is made up of two identical subunits, and is expressed in all tissues, making it an important enzyme in energy metabolism throughout the body. The subunits contain around 250 amino acids each, and both have a full set of catalytic active site residues: Glu165, His95 and Lys13. TPI is only active in its oligomeric form, requiring the enzyme to be dimerised in order to achieve its full function. TPI deficiency is a rare genetic disorder that is usually inherited in an autosomal recessive manner. As a result of this deficiency, there is a reduced ability for TPI to convert DHAP to G3P. This can result in a range of symptoms, including hemolytic anaemia, neuromuscular impairment and developmental delays. Those with TPI deficiency usually die in early childhood, with a life expectancy of around 6 years of age.