FBXW4

(redirected from SHFM3)

FBXW4

A 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.
References in periodicals archive ?
kromozomun q24 lokusundaki duplikasyonlarla iliskili otozomal dominant kalitimli SHFM3, TP63 genindeki heterozigot mutasyonlarla iliskili otozomal dominant kalitimli SHFM4, 2.
Bizim olgumuzda yapilan karyotip ve kromozomal array analizinde 7q21.3 bolgesinde herhangi bir kromozomal yeniden duzenlenme, delesyon/duplikasyon saptanmamasi nedeniyle SHFM1 ve 10q24 duplikasyonlari ile iliskili SHFM3 tanisindan uzaklasildi ancak tum ekzom dizileme (whole exome sequencing, WES) yapilamadigi icin SHFM'larinin diger tipleri ve DLX5 intragenik mutasyonlari ile ilsikili SHFM1 ayirici tanida yer almaktadir.
A split handsplit foot (SHFM3) gene is located at 10q24-q25.
Fine mapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion.