paired mesoderm homeobox protein 2A; ARIX1 homeodomain protein; Aristaless homeobox protein homolog; paired-like homeobox 2A (PHOX2A, ARIX, PMX2A)

Function

• may be involved in regulating expression of catecholamine biosynthetic genes
• acts as a transcription activator/factor
• could maintain the noradrenergic phenotype

Structure

• belongs to the paired homeobox family
• contains 1 homeobox DNA-binding domain

Compartment

nucleus (putative)

Pathology

• defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2

More general terms

• homeobox protein

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=401
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:401
• OMIM: https://mirror.omim.org/entry/602078
• OMIM: https://mirror.omim.org/entry/602753
• UniProt: http://www.uniprot.org/uniprot/O14813.html