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This target displays homology in the following species: Cow: 93%; Dog: 79%; Guinea Pig: 100%; Horse: 93%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%; Zebrafish: 93%
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: Polypyrimidine tract-binding protein 3; Regulator of differentiation 1; Rod1; ROD1 regulator of differentiation 1
基因别名: 5830471K22Rik; AA407443; AI462022; AW107884; C86549; Ptbp3; Rod1
UniProt ID: (Mouse) Q8BHD7
Entrez Gene ID: (Mouse) 230257