C20orf203 (chromosome 20 open reading frame 203)
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C20orf203 is a de novo human gene that evolved from non-coding DNA after the split between human and chimp. In the human lineage 5 point mutations in the region resulted in the creation of an open reading frame which lead to the expression and translation of 194 amino acid (22kDa) protein. This protein is enriched in the brain and is up regulated in the brains of Alzheimer’s patients and thus has been hypothesized to play a role in the pathogenesis of this disease.
References
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A human-specific de novo protein-coding gene associated with human brain functions., , PLoS Comput Biol, 2010 Mar, Volume 6, Issue 3, p.e1000734, (2010)