paired mesodermal homeobox protein 2B; paired-like homeobox 2B; neuroblastoma Phox; NBPhox (PHOX2B, PMX2B)

Function

• role 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 & c-fos promoters, & of several enhancers including cAMP-response element & serum-response element

Structure

• belongs to the paired homeobox family
• contains 1 homeobox DNA-binding domain

Compartment

nucleus (putative)

Expression

• expressed in neuroblastoma, brain & adrenal gland

Pathology

• defects in PHOX2B are a cause of
  • congenital central hypoventilation syndrome
  • neuroblastoma

More general terms

• homeobox protein

Database

• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:8929
• OMIM: https://mirror.omim.org/entry/209880
• OMIM: https://mirror.omim.org/entry/256700
• OMIM: https://mirror.omim.org/entry/603851
• UniProt: http://www.uniprot.org/uniprot/Q99453.html