鎶椾綋 >> 鍏朵粬鎶椾綋
SHFM3铔嬬櫧鎶椾綋
浜よ揣鏈烔 1鍛?/span>
绱㈠彇璧勬枡鍙婃姤浠饵/span>
浜у搧浠嬬粛
闈舵爣锛欬p style="text-indent: 2em;">FBXW4
浜у搧鍒悕锛欬p style="text-indent: 2em;">DAC锛 FBW4锛 FBWD4锛 SHFM3锛 SHSF3锛 FBXW4锛 F-box and WD repeat domain containing 4锛 F-box and WD repeat domain containing 4锛 F-box/WD repeat-containing protein 4锛 F-box and WD-40 domain protein 4锛 F-box and WD-40 domain-containing protein 4锛 F-box/WD repeat protein 4锛 dactylin锛 epididymis secretory sperm binding protein锛 SHFM3铔嬬櫧锛 鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">This gene is a member of the F-box/WD-40 gene family, which recruit specific target proteins through their WD-40 protein-protein binding domains for ubiquitin mediated degradation. In mouse, a highly similar protein is thought to be responsible for maintaining the apical ectodermal ridge of developing limb buds; disruption of the mouse gene results in the absence of central digits, underdeveloped or absent metacarpal/metatarsal bones and syndactyly. This phenotype is remarkably similar to split hand-split foot malformation in humans, a clinically heterogeneous condition with a variety of modes of transmission. An autosomal recessive form has been mapped to the chromosomal region where this gene is located, and complex rearrangements involving duplications of this gene and others have been associated with the condition. A pseudogene of this locus has been mapped to one of the introns of the BCR gene on chromosome 22. 瀹夸富锛歊bt |
鐩稿叧浜у搧
|