FTO Recombinant Protein

FTO: Dioxygenase that repairs alkylated DNA and RNA by oxidative demethylation. Has highest activity towards single- stranded RNA containing 3-methyluracil, followed by single- stranded DNA containing 3-methylthymine. Has low demethylase activity towards single-stranded DNA containing 1-methyladenine or 3-methylcytosine. Has no activity towards 1-methylguanine. Has no detectable activity towards double-stranded DNA. Requires molecular oxygen, alpha-ketoglutarate and iron. Contributes to the regulation of the global metabolic rate, energy expenditure and energy homeostasis. Contributes to the regulation of body size and body fat accumulation. Defects in FTO are the cause of growth retardation developmental delay coarse facies and early death (GDFD). A severe polymalformation syndrome characterized by postnatal growth retardation, microcephaly, severe psychomotor delay, functional brain deficits and characteristic facial dysmorphism. In some patients, structural brain malformations, cardiac defects, genital anomalies, and cleft palate are observed. Early death occurs by the age of 3 years. Belongs to the fto family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 1.14.11.-

Cellular Component: nuclear speck; nucleus

Molecular Function: procollagen-proline dioxygenase activity; 2,4-dichlorophenoxyacetate alpha-ketoglutarate dioxygenase activity; sulfonate dioxygenase activity; dioxygenase activity; ferrous iron binding; metal ion binding; DNA-N1-methyladenine dioxygenase activity; oxidoreductase activity

Biological Process: DNA dealkylation; RNA repair; regulation of multicellular organism growth; thermoregulation; DNA repair; response to DNA damage stimulus