FTO siRNA – Alpha-Ketoglutarate-Dependent Dioxygenase FTO (Human)

This gene is a nuclear protein of the AlkB related non-haem iron and 2-oxoglutarate-dependent oxygenase superfamily but the exact physiological function of this gene is not known. Other non-heme iron enzymes function to reverse alkylated DNA and RNA damage by oxidative demethylation. Studies in mice and humans indicate a role in nervous and cardiovascular systems and a strong association with body mass index, obesity risk, and type 2 diabetes. [provided by RefSeq, Jul 2011]

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.-

Chromosomal Location of Human Ortholog: 16q12.2

Cellular Component: nuclear speck; nucleus

Molecular Function: ferrous iron binding; DNA-N1-methyladenine dioxygenase activity

Biological Process: DNA dealkylation; RNA repair; regulation of multicellular organism growth; thermoregulation

Disease: Growth Retardation, Developmental Delay, Coarse Facies, And Early Death