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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 1; Rod1; ROD1 regulator of differentiation 1
Gene Aliases: PTBP3; ROD1
UniProt ID: (Human) O95758
Entrez Gene ID: (Human) 9991
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