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 recessivecongenital fibrosis of the extraocular muscles (CFEOM2).[7]
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Johnson KR, Smith L, Johnson DK, Rhodes J, Rinchik EM, Thayer M, Lewis EJ (Sep 1996). "Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13".Genomics.33 (3):527–31.doi:10.1006/geno.1996.0230.PMID8661014.
^Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC (Nov 2001). "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2".Nat. Genet.29 (3):315–20.doi:10.1038/ng744.PMID11600883.S2CID25403574.
Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K (2003). "Molecular analysis of congenital central hypoventilation syndrome".Hum. Genet.114 (1):22–6.doi:10.1007/s00439-003-1036-z.PMID14566559.S2CID24588298.
Yazdani A, Chung DC, Abbaszadegan MR, Al-Khayer K, Chan WM, Yazdani M, Ghodsi K, Engle EC, Traboulsi EI (2003). "A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2)".Am. J. Ophthalmol.136 (5):861–5.doi:10.1016/S0002-9394(03)00891-2.PMID14597037.
Jiang Y, Matsuo T, Fujiwara H, Hasebe S, Ohtsuki H, Yasuda T (2005). "ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy".Acta Med. Okayama.59 (2):55–62.PMID16049556.
Rychlik JL, Hsieh M, Eiden LE, Lewis EJ (2005). "Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type".J. Mol. Neurosci.27 (3):281–92.doi:10.1385/JMN:27:3:281.PMID16280598.S2CID1021814.
