Paired mesoderm homeobox protein 2A is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''PHOX2A''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
Function
The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive
congenital fibrosis of the extraocular muscles
Congenital fibrosis of the extraocular muscles is a class of rare genetic disorders affecting one or more of the muscles that move the eyeballs. Individuals with congenital fibrosis of the extraocular muscles (CFEOM) have varying degrees of ophth ...
(CFEOM2).
Interactions
PHOX2A has been shown to
interact
Advocates for Informed Choice, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex traits. The organizati ...
with
HAND2
Heart- and neural crest derivatives-expressed protein 2 is a protein that in humans is encoded by the ''HAND2'' gene.
Function
The protein encoded by this gene belongs to the basic helix-loop-helix family of transcription factors. This gene p ...
.
References
Further reading
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External links
Engle Laboratory CFEOM page GeneReviews/NCBI/NIH/UW entry on Congenital Fibrosis of the Extraocular Muscles OMIM entries on Congenital Fibrosis of the Extraocular Muscles*
Transcription factors
{{gene-11-stub