Paired mesoderm homeobox protein 2A 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 ''PHOX2A''
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 ...
.
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 (CFEOM2).
Interactions
PHOX2A has been shown to
interact with
HAND2.
See also
PHOX2B
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