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Protein Page:
PHOX2A (human)

Overview
PHOX2A 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. Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2). CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM2 may result from the aberrant development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. Belongs to the paired homeobox family. Note: This description may include information from UniProtKB.
Protein type: DNA-binding; Transcription factor
Chromosomal Location of Human Ortholog: 11q13.2
Cellular Component: nuclear chromatin
Biological Process: positive regulation of transcription from RNA polymerase II promoter
Disease: Fibrosis Of Extraocular Muscles, Congenital, 2
Reference #:  O14813 (UniProtKB)
Alt. Names/Synonyms: aristaless homeobox homolog; Aristaless homeobox protein homolog; ARIX; arix homeodomain protein; ARIX1 homeodomain protein; CFEOM2; FEOM2; MGC52227; NCAM2; Paired mesoderm homeobox protein 2A; Paired-like homeobox 2A; PHOX2A; PHX2A; PMX2A
Gene Symbols: PHOX2A
Molecular weight: 29,653 Da
Basal Isoelectric point: 8.98  Predict pI for various phosphorylation states
Select Structure to View Below

PHOX2A

Protein Structure Not Found.


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