Rabbit anti-Human PHOX2B Polyclonal Antibody

Uniprot Id

Q99453

Target Species

Human

Target Name

PHOX2B

Target Full Name

Paired mesoderm homeobox protein 2B

Target Function

Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.

Target Involvement

Congenital central hypoventilation syndrome (CCHS); Neuroblastoma 2 (NBLST2)

Target Subcellular Location

Nucleus.

Target Protein Families

Paired homeobox family

Target Tissue Specificity

Expressed in neuroblastoma, brain and adrenal gland.

Target Synonyms

NBLST2; NBPhox; Neuroblastoma paired type homeobox protein; Neuroblastoma Phox; Paired like homeobox 2b; Paired mesoderm homeobox 2b; Paired mesoderm homeobox protein 2B; Paired-like homeobox 2B; PHOX 2B; PHOX 2B homeodomain protein; PHOX2B; PHOX2B homeodomain protein; PHX2B_HUMAN; PMX 2B ; PMX2B

Target Background

The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome.