| 单词 | rbm17 |
| 释义 | RBM17RBM17A gene on chromosome 10p15.1 that encodes an RNA-binding protein which is part of the spliceosome complex and functions in RNA splicing. RBM17 binds to the single-stranded 3'AG at the exon/intron interface and promotes its utilisation in the second catalytic step. It promotes the utilisation of a cryptic splice site created by the beta-110 mutation in HBB; this frameshift leads to sickle cell anaemia. |
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