PHOX2B

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PHOX2B
Identifiers
AliasesPHOX2B, NBLST2, NBPhox, PMX2B, paired like homeobox 2b, CCHS
External IDsOMIM: 603851 MGI: 1100882 HomoloGene: 68371 GeneCards: PHOX2B
Gene location (Human)
Chromosome 4 (human)
Chr.Chromosome 4 (human)[1]
Chromosome 4 (human)
Genomic location for PHOX2B
Genomic location for PHOX2B
Band4p13Start41,744,082 bp[1]
End41,748,970 bp[1]
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_003924

NM_008888

RefSeq (protein)

NP_003915

NP_032914

Location (UCSC)Chr 4: 41.74 – 41.75 MbChr 5: 67.09 – 67.1 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5]

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 (dysautonomia): congenital central hypoventilation syndrome (associated with respiratory arrests during sleep and, occasionally, wakefulness), Hirschsprung's disease (partial agenesis of the enteric nervous system), ROHHAD, 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 may also be other pathogenic mutations further along the gene.

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000109132 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000012520 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: paired-like homeobox 2b".

Further reading[edit]

External links[edit]