Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Immunogen sequence: QFRPDGASLN RRPLGVFAGH DEDVCHFVLA NSHIVSAGGD GKIGIHKIHS TFTVKYSAHE QEVNCVDCKG GIIVSGSRDR TAKVWPLASG RLGQCLHTIQ TEDRVWSIAI SPLLSSFVTG TACCGHFSPL RIWDLNSGQL MTHLGSDFPP GAGVLDVMYE SPFTLLSCGY DTYVRYWDLR TSVRKCVMEW EEPHDSTLYC LQTDGNHLLA TGSSYYGVVR LWDRRQRACL HAFPLTSTPL SSPVYCLRLT TKHLYAALSY NLHVLDFQNP; Positive Samples: Mouse brain
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.
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Protein Aliases: dactylaplasia; F-box and WD-40 domain-containing protein 4; F-box protein Fbw4; F-box/WD repeat-containing protein 4; Protein hagoromo
Gene Aliases: Dac; dactylin; dactylyn; Fbw4; Fbxw4; SHFM3; SHSF3
UniProt ID: (Mouse) Q9JMJ2
Entrez Gene ID: (Mouse) 30838
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