A fault in the CHM gene
causes choroideremia, in which cells in the retina stop working and slowly die, leading to blindness.
Not exact matches
Choroideremia is
caused by defects in the CHM gene, which produces a protein called REP - 1 and affects one in 50,000 people.
Thus it was fascinating to see positive selection on genes like CHM and CNGB3, in which mutations can
cause retinal diseases featuring night blindness (i.e.
choroideremia and retinitis pigmentosa) in humans.