The incorporation of selenocysteine into a protein requires the concerted action of an mRNA element called a sec insertion sequence (SECIS), a selenocysteine-specific translation elongation factor and a SECIS binding protein. With these elements in place, a UGA codon can be decoded as selenocysteine. SBP2 is a nuclear protein that functions as a SECIS binding protein, but experimental evidence indicates that SBP2 is cytoplasmic.[2]
Clinical significance
Mutations in this gene have been associated with a reduction in activity of a specific thyroxine deiodinase, a selenocysteine-containing enzyme, and abnormal thyroid hormone metabolism.[2]
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Dumitrescu AM, Liao XH, Abdullah MS, Lado-Abeal J, Majed FA, Moeller LC, Boran G, Schomburg L, Weiss RE, Refetoff S (November 2005). "Mutations in SECISBP2 result in abnormal thyroid hormone metabolism". Nature Genetics. 37 (11): 1247–52. doi:10.1038/ng1654. PMID16228000.
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