Search Thermo Fisher Scientific
Immunogen sequence: MDASPSPFS LPKKLNELSA RRGSDELLSS GIINGPFTMN SSTPSTANGN DSKKFKRDRP PCSPSRVLHL RKIPCDVTEA EIISLGLPFG KVTNLLMLKG KSQAFLEMAS EEAAVTMVNY YTPITPHLRS QPVYIQYSNH RELKTDNLPN QARAQAALQA VSAVQSGSLA LSGGPSNEGT VLPGQSPVLR IIIENLFYPV TLEVLHQIFS KFGTVLKIIT FTKNNQFQAL LQYADPVNAH YAKMALDGQN IYNACCTLRI DFSKLTSLNV KYNNDKSRDF TRLDLPTGDG QPSLEPPMAA AFGAPGIISS PYAGAAGFAP AIGFPQATGL SVPAVPGALG PLTITSSAVT G (1-350 aa encoded by BC044585)
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 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
基因别名: 5830471K22Rik; AA407443; AI462022; AW107884; C86549; PTBP3; ROD1
UniProt ID: (Human) O95758, (Mouse) Q8BHD7, (Rat) Q9Z118
Entrez Gene ID: (Human) 9991, (Mouse) 230257, (Rat) 83515