Specifications
Species Reactivity
Human; Rat
Immunogen
PHOX2A (NP_005160, 1 a.a. ~ 90 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.
Target
Alternative Names
PHOX2A; paired-like homeobox 2a; aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive , ARIX, FEOM2, paired like (aristaless) homeobox 2a; paired mesoderm homeobox protein
Product Background
Antigen Description
The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles.
Pathway
SIDS Susceptibility Pathways, organism-specific biosystem;
Citations
Publication ()
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