protein fatso (fat mass & obesity-associated protein, FTO, KIAA1752)

Function

• role in mitochondrial thermogenesis
• inhibits ARID5B
• lipid metabolism (putative)

Structure

belongs to the fatso family

Alternative splicing

named isoforms=4

Expression

• ubiquitously expressed
• relatively high expression in adrenal glands & brain
• in brain, higher expression in hypothalamus & pituitary

Genetics

• protein called 'Fatso' (Fto) due to large size of gene

Polymorphism

• at least one intronic variation within gene carried by 46% of Western Europeans
  • predisposes to childhood & adult obesity
    • in the elderly, mean BMI 27.1 in carriers vs 25.6 in non carriers
  • allele associated with diminished brain volume in the elderly
  • allele not associated with lower mini-mental status exam (MMSE) scores, although higher BMIs were
• the FTO allele rs1421085 T-to-C single-nucleotide variant disrupts a conserved motif for the ARID5B repressor, leading to derepression of a preadipocyte enhancer & overexpression of IRX3 & IRX5 skewing development of adipocytes more toward white fat, which store energy as fat, & less toward brown fat, which burn energy via their mitochondria

More general terms

• other protein

Database

• UniProt: http://www.uniprot.org/uniprot/Q9C0B1.html