PHOX2B

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Paired-like homeobox 2b
Identifiers
Symbols PHOX2B ; NBLST2; NBPhox; PMX2B
External IDs OMIM603851 MGI1100882 HomoloGene68371 GeneCards: PHOX2B Gene
Orthologs
Species Human Mouse
Entrez 8929 18935
Ensembl ENSG00000109132 ENSMUSG00000012520
UniProt Q99453 O35690
RefSeq (mRNA) NM_003924 NM_008888
RefSeq (protein) NP_003915 NP_032914
Location (UCSC) Chr 4:
41.75 – 41.75 Mb
Chr 5:
67.09 – 67.1 Mb
PubMed search [1] [2]

Paired-like homeobox 2b (PHOX2B), also known as neuroblastoma Phox (NBPhox), is a protein that in humans is encoded by the PHOX2B gene located on chromosome 4.[1]

It codes for a homeodomain transcription factor. It is expressed exclusively in the nervous system, in most neurons that control the viscera (cardiovascular, digestive and respiratory systems). It is also required for their differentiation.

Pathology[edit]

Mutations in human PHOX2B cause a rare disease of the visceral nervous system (or dysautonomia): Ondine's curse or Congenital Central Hypoventilation Syndrome (CCHS, associated with respiratory arrests during sleep and, occasionally, wakefulness), Hirschprung's disease (partial agenesis of the enteric nervous system) and tumours of the sympathetic ganglia. In most people, Exon 3 of the gene contains a sequence of 20 polyalanine repeats. An increase in the number of repeats is associated with congenital central hypoventilation syndrome. There are other non-polyalanine repeats that may also be involved, as well as other mutations of uncertain significance during gene sequencing.

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