Disease-gene associations mined from literature

Literature associating PHOX2A and congenital fibrosis of the extraocular muscles

PHOX2A [ENSP00000298231]

Aristaless homeobox protein homolog; May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype; PRD class homeoboxes and pseudogenes

Synonyms:  PHOX2A,  PHOX2Ap,  hPHOX2A,  O14813,  ARIX ...

Linkouts:  STRING  Pharos  UniProt  OMIM