SELENOO

Chr 22

selenoprotein O

Also known as: SELO

NCBI Gene: 83642 ENSG00000073169 UniProt: Q9BVL4

This gene encodes a large mitochondrial selenoprotein that catalyzes AMPylation of serine, threonine, and tyrosine residues in target proteins and may have redox activity. The gene is highly tolerant to loss-of-function variants (LOEUF 1.69), and no definitive human disease associations have been established for SELENOO mutations. Clinical significance of variants in this gene remains uncertain.

ResearchSummary from RefSeq, UniProt

This gene encodes a selenoprotein that is localized to the mitochondria. It is the largest mammalian selenoprotein, containing the rare amino acid selenocysteine (Sec). Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. The exact function of this selenoprotein is not known, but it is thought to have redox activity. [provided by RefSeq, Dec 2016]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.69

LOEUF

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Mechanism

Some data sources returned errors (1)