FBXW4 F-box and WD repeat domain containing 4
Gene ID: 6468, updated on 5-Mar-2024Gene type: protein coding
Also known as: DAC; FBW4; FBWD4; SHFM3; SHSF3
- See all available tests in GTR for this gene
- Go to complete Gene record for FBXW4
- Go to Variation Viewer for FBXW4 variants
Summary
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. [provided by RefSeq, Jul 2008]
Copy number response
Description |
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Copy number response Haploinsufficency No evidence available (Last evaluated 2014-10-08) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2014-10-08) ClinGen Genome Curation Page |
Genomic context
- Location:
- 10q24.32
- Sequence:
- Chromosome: 10; NC_000010.11 (101610666..101695295, complement)
- Total number of exons:
- 10
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for FBXW4 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- FBXW4 database
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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