Eyes absent homolog 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''EYA1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
This gene encodes a member of the
eyes absent (EYA) subfamily of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with
branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of
congenital cataract
Congenital cataracts are a lens opacity that is present at birth. Congenital cataracts occur in a broad range of severity. Some lens opacities do not progress and are visually insignificant, others can produce profound visual impairment.
Cong ...
s and ocular anterior segment anomalies. A similar protein in mice can act as a
transcriptional activator
A transcriptional activator is a protein (transcription factor) that increases transcription of a gene or set of genes. Activators are considered to have ''positive'' control over gene expression, as they function to promote gene transcription and ...
. Four transcript variants encoding three distinct isoforms have been identified for this gene.
Interactions
EYA1 has been shown to
interact with
SIX1.
References
Further reading
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