EYA1(redirected from OTTHUMP00000195107)
Notation for the human analogue of Drosophila eyes absent gene.
Farlex Partner Medical Dictionary © Farlex 2012
EYA1A gene on chromosome 8q13.3 that encodes an eyes absent (EYA) family protein, which may play a role in the developing kidney, branchial arches, eyes and ears.
EYA1 mutations are linked to branchiootorenal (BOR) syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment defects.
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