TIM Antibody – Mouse Monoclonal

This gene encodes an enzyme, consisting of two identical proteins, which catalyzes the isomerization of glyceraldehydes 3-phosphate (G3P) and dihydroxy-acetone phosphate (DHAP) in glycolysis and gluconeogenesis. Mutations in this gene are associated with triosephosphate isomerase deficiency. Pseudogenes have been identified on chromosomes 1, 4, 6 and 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2009]

TPI1: Defects in TPI1 are the cause of triosephosphate isomerase deficiency (TPI deficiency). TPI deficiency is an autosomal recessive disorder. It is the most severe clinical disorder of glycolysis. It is associated with neonatal jaundice, chronic hemolytic anemia, progressive neuromuscular dysfunction, cardiomyopathy and increased susceptibility to infection. Belongs to the triosephosphate isomerase family. 2 isoforms of the human protein are produced by alternative promoter.

Protein type: Isomerase; Carbohydrate Metabolism - glycolysis and gluconeogenesis; EC 5.3.1.1; Carbohydrate Metabolism - fructose and mannose; Carbohydrate Metabolism - inositol phosphate

Chromosomal Location of Human Ortholog: 12p13

Cellular Component: extracellular space; cytosol; nucleus

Molecular Function: protein binding; triose-phosphate isomerase activity

Biological Process: pentose-phosphate shunt; glycolysis; multicellular organismal development; carbohydrate metabolic process; glucose metabolic process; pathogenesis; gluconeogenesis

Disease: Triosephosphate Isomerase Deficiency