EYA1

(redirected from eyes absent homolog 1)

EYA1

Notation for the human analogue of Drosophila eyes absent gene.

Farlex Partner Medical Dictionary © Farlex 2012

EYA1

A 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.

Molecular pathology
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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BOR
branchio-oto-renal syndrome

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