PHOX2A

Protein-coding gene in humans From Wikipedia, the free encyclopedia

Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.[5][6][7]

AliasesPHOX2A, ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired like homeobox 2a
End72,245,664 bp[1]
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PHOX2A
Identifiers
AliasesPHOX2A, ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired like homeobox 2a
External IDsOMIM: 602753; MGI: 106633; HomoloGene: 31296; GeneCards: PHOX2A; OMA:PHOX2A - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005169

NM_008887

RefSeq (protein)

NP_005160

NP_032913

Location (UCSC)Chr 11: 72.24 – 72.25 MbChr 7: 101.47 – 101.47 Mb
PubMed search[3][4]
Wikidata
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Function

The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2).[7]

Interactions

PHOX2A has been shown to interact with HAND2.[8]

See also

References

Further reading

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