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This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.
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Protein Aliases: fission yeast differentiation regulator; Polypyrimidine tract-binding protein 3; regulator of differentiation (in S. pombe) 1; Regulator of differentiation 1; Rod1; ROD1 regulator of differentiation 1
Gene Aliases: 5830471K22Rik; AA407443; AI462022; AW107884; C86549; PTBP3; ROD1
UniProt ID: (Human) O95758, (Mouse) Q8BHD7, (Rat) Q9Z118
Entrez Gene ID: (Human) 9991, (Mouse) 230257, (Rat) 83515
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