单词 | fbxw4 |
释义 | FBXW4FBXW4A gene on chromosome 10q24 that encodes a member of the F-box/WD-40 gene family, which recruit specific target proteins by WD-40 protein-protein-binding domains for phosphorylation-dependent ubiquitination and ubiquitin-mediated degradation of targeted proteins. A knockout mouse model of FBXW4 results in absent central digits, underdeveloped/absent metacarpal/metatarsal bones and syndactyly, which is similar to a human counterpart; split hand/foot malformation with an autosomal recessive form characterised by complex rearrangements and duplications map to 10q24. |
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