SHFM3 Products

Description

SHFM3 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. [provided by RefSeq]

Bioinformatics

Entrez	6468 Human
Uniprot	NP_071322 Human NP_071322.1 Human P57775 Human
Product By Gene ID	6468
Alternate Names	DAC Dactylin dactylin F-box and WD repeat domain containing 4 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 Fbw4 FBW4split hand/foot malformation (ectrodactyly) type 3 FBWD4 SHFM3 SHSF3

Research Areas for SHFM3

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Signal Transduction