Paired like homeobox protein 2A (PHOX2A)

Paired like homeobox protein 2A (PHOX2A) is a transcription factor characterized by a paired-like homeodomain, highly similar to the Drosophila aristaless gene product. PHOX2A is expressed primarily in developing and mature noradrenergic neurons, where it regulates key genes necessary for catecholamine synthesis, including tyrosine hydroxylase and dopamine beta-hydroxylase. It plays a critical role in the development of the autonomic nervous system and the cranial nerves III and IV, which control eye movement. Mutations in PHOX2A cause congenital fibrosis of the extraocular muscles type 2 (CFEOM2), leading to abnormal eye movement and tendon development, but do not appear to significantly affect autonomic nervous system function.

Other names

ARIXPMX2ACFEOM2ARIX1 homeodomain proteinaristaless homeobox protein homologpaired mesoderm homeobox protein 2AFEOM2NCAM2paired-like homeobox 2aPHX2A_HUMANMGC52227