| Description |
FOX1, also known as ataxin-2 binding protein 1 (A2BP1), is a neuron specific RNA-binding protein that has been shown to regulate a wide range of alternative splicing events implicated in neuronal development and maturation including transcription factors and synaptic proteins (Fogel et al., 2012). Defects in FOX1 have also been associated with autism (Martin et al., 2007), attention-deficit hyperactivity disorder (Elia et al., 2010) and schizophrenia (Xu et al., 2008). |
| Synonyms |
RNA binding protein fox-1 homolog 1, Ataxin-2-binding protein 1, Fox-1 homolog A, Hexaribonucleotide-binding protein 1, RBFOX1, A2BP, A2BP1, FOX1, HRNBP1 |
| References |
Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'arcy M, deBerardinis R, Frackelton E, Kim C, Lantieri F, Muganga BM, Wang L, Takeda T, Rappaport EF, Grant SF, Berrettini W, Devoto M, Shaikh TH, Hakonarson H, White PS. (2010) Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry. Jun;15(6):637-46.
Fogel BL, Wexler E, Wahnich A, Friedrich T, Vijayendran C, Gao F, Parikshak N, Konopka G, Geschwind DH. (2012) RBFOX1 regulates both splicing and transcriptional networks in human neuronal development. Hum Mol Genet. Oct 1;21(19):4171-86.
Martin CL, Duvall JA, Ilkin Y, Simon JS, Arreaza MG, Wilkes K, Alvarez-Retuerto A, Whichello A, Powell CM, Rao K, Cook E, Geschwind DH. (2007) Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism. Am J Med Genet B Neuropsychiatr Genet. Oct 5;144B(7):869-76.
Xu B, Roos JL, Levy S, van Rensburg EJ, Gogos JA, Karayiorgou M. (2008) Strong association of de novo copy number mutations with sporadic schizophrenia. Nat Genet. Jul;40(7):880-5.
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