Gene Review:
PHOX2A - paired-like homeobox 2a
Homo sapiens
Synonyms:
ARIX, ARIX1 homeodomain protein, Aristaless homeobox protein homolog, CFEOM2, FEOM2, ...
- A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). Yazdani, A., Chung, D.C., Abbaszadegan, M.R., Al-Khayer, K., Chan, W.M., Yazdani, M., Ghodsi, K., Engle, E.C., Traboulsi, E.I. Am. J. Ophthalmol. (2003)
- CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX. Engle, E.C., McIntosh, N., Yamada, K., Lee, B.A., Johnson, R., O'Keefe, M., Letson, R., London, A., Ballard, E., Ruttum, M., Matsumoto, N., Saito, N., Collins, M.L., Morris, L., Del Monte, M., Magli, A., de Berardinis, T. BMC Genet. (2002)
- ERK1/2 is a negative regulator of homeodomain protein Arix/Phox2a. Hsieh, M.M., Lupas, G., Rychlik, J., Dziennis, S., Habecker, B.A., Lewis, E.J. J. Neurochem. (2005)
- Congenital abnormalities of cranial nerve development: overview, molecular mechanisms, and further evidence of heterogeneity and complexity of syndromes with congenital limitation of eye movements. Traboulsi, E.I. Transactions of the American Ophthalmological Society. (2004)
- The homeodomain protein Arix promotes protein kinase A-dependent activation of the dopamine beta-hydroxylase promoter through multiple elements and interaction with the coactivator cAMP-response element-binding protein-binding protein. Swanson, D.J., Adachi, M., Lewis, E.J. J. Biol. Chem. (2000)
- Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. Nakano, M., Yamada, K., Fain, J., Sener, E.C., Selleck, C.J., Awad, A.H., Zwaan, J., Mullaney, P.B., Bosley, T.M., Engle, E.C. Nat. Genet. (2001)
- Congenital fibrosis of the extraocular muscles type 2, an inherited exotropic strabismus fixus, maps to distal 11q13. Wang, S.M., Zwaan, J., Mullaney, P.B., Jabak, M.H., Al-Awad, A., Beggs, A.H., Engle, E.C. Am. J. Hum. Genet. (1998)
- Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Bachetti, T., Matera, I., Borghini, S., Di Duca, M., Ravazzolo, R., Ceccherini, I. Hum. Mol. Genet. (2005)
- Identification of KIF21A mutations as a rare cause of congenital fibrosis of the extraocular muscles type 3 (CFEOM3). Yamada, K., Chan, W.M., Andrews, C., Bosley, T.M., Sener, E.C., Zwaan, J.T., Mullaney, P.B., Oztürk, B.T., Akarsu, A.N., Sabol, L.J., Demer, J.L., Sullivan, T.J., Gottlob, I., Roggenkäemper, P., Mackey, D.A., De Uzcategui, C.E., Uzcategui, N., Ben-Zeev, B., Traboulsi, E.I., Magli, A., de Berardinis, T., Gagliardi, V., Awasthi-Patney, S., Vogel, M.C., Rizzo, J.F., Engle, E.C. Invest. Ophthalmol. Vis. Sci. (2004)
- ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy. Jiang, Y., Matsuo, T., Fujiwara, H., Hasebe, S., Ohtsuki, H., Yasuda, T. Acta Med. Okayama (2005)
- The paired-like homeodomain protein, Arix, mediates protein kinase A-stimulated dopamine beta-hydroxylase gene transcription through its phosphorylation status. Adachi, M., Lewis, E.J. J. Biol. Chem. (2002)
- Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13. Johnson, K.R., Smith, L., Johnson, D.K., Rhodes, J., Rinchik, E.M., Thayer, M., Lewis, E.J. Genomics (1996)
- The homeodomain protein Arix interacts synergistically with cyclic AMP to regulate expression of neurotransmitter biosynthetic genes. Swanson, D.J., Zellmer, E., Lewis, E.J. J. Biol. Chem. (1997)
- The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA. Rychlik, J.L., Gerbasi, V., Lewis, E.J. J. Biol. Chem. (2003)
- Neurological features of congenital fibrosis of the extraocular muscles type 2 with mutations in PHOX2A. Bosley, T.M., Oystreck, D.T., Robertson, R.L., al Awad, A., Abu-Amero, K., Engle, E.C. Brain (2006)
- Familial unilateral Brown syndrome. Iannaccone, A., McIntosh, N., Ciccarelli, M.L., Baldi, A., Mutolo, P.A., Tedesco, S.A., Engle, E.C. Ophthalmic Genet. (2002)
- Association between schizophrenia with ocular misalignment and polyalanine length variation in PMX2B. Toyota, T., Yoshitsugu, K., Ebihara, M., Yamada, K., Ohba, H., Fukasawa, M., Minabe, Y., Nakamura, K., Sekine, Y., Takei, N., Suzuki, K., Itokawa, M., Meerabux, J.M., Iwayama-Shigeno, Y., Tomaru, Y., Shimizu, H., Hattori, E., Mori, N., Yoshikawa, T. Hum. Mol. Genet. (2004)
- ARIX gene polymorphisms in patients with congenital superior oblique muscle palsy. Jiang, Y., Matsuo, T., Fujiwara, H., Hasebe, S., Ohtsuki, H., Yasuda, T. The British journal of ophthalmology. (2004)