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Immunogen sequence: QCLHTIQTED RVWSIAISPL LSSFVTGTAC CGHFSPLRIW DLNSGQLMTH LGSDFPPGAG VLDVMYESPF TLLSCGYD
Highest antigen sequence identity to the following orthologs: Mouse - 97%, Rat - 95%.
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.
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: Dactylin; F-box and WD-40 domain protein 4; F-box and WD-40 domain-containing protein 4; F-box/WD repeat protein 4; F-box/WD repeat-containing protein 4
基因别名: DAC; FBW4; FBWD4; FBXW4; SHFM3; SHSF3
UniProt ID: (Human) P57775
Entrez Gene ID: (Human) 6468