FBXW4

F-box/WD repeat-containing protein 4 is a protein that in humans is encoded by the FBXW4 gene.[5][6][7]

FBXW4
Identifiers
AliasesFBXW4, DAC, FBW4, FBWD4, SHFM3, SHSF3, F-box and WD repeat domain containing 4
External IDsOMIM: 608071 MGI: 1354698 HomoloGene: 32197 GeneCards: FBXW4
Orthologs
SpeciesHumanMouse
Entrez

6468

30838

Ensembl

ENSG00000107829

ENSMUSG00000040913

UniProt

P57775

Q9JMJ2

RefSeq (mRNA)

NM_022039
NM_001323541

NM_013907

RefSeq (protein)

NP_001310470
NP_071322

NP_038935

Location (UCSC)Chr 10: 101.61 – 101.7 MbChr 19: 45.57 – 45.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

References

  1. GRCh38: Ensembl release 89: ENSG00000107829 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000040913 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Gurrieri F, Prinos P, Tackels D, Kilpatrick MW, Allanson J, Genuardi M, Vuckov A, Nanni L, Sangiorgi E, Garofalo G, Nunes ME, Neri G, Schwartz C, Tsipouras P (Oct 1996). "A split hand-split foot (SHFM3) gene is located at 10q24-->25". Am J Med Genet. 62 (4): 427–36. doi:10.1002/(SICI)1096-8628(19960424)62:4<427::AID-AJMG16>3.0.CO;2-Q. PMID 8723077.
  6. Palmer SE, Scherer SW, Kukolich M, Wijsman EM, Tsui LC, Stephens K, Evans JP (Jul 1994). "Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation". Am J Hum Genet. 55 (1): 21–6. PMC 1918225. PMID 7912888.
  7. "Entrez Gene: FBXW4 F-box and WD repeat domain containing 4".

Further reading

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