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FBXW4
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FBXW4

The information on this page was automatically extracted from online scientific databases.

On this page:

What is the official name of the FBXW4 gene?

The official name of this gene is “F-box and WD repeat domain containing 4.”

FBXW4 is the gene's official symbol. The FBXW4 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the FBXW4 gene?

From Entrez GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation. Likely to be involved in key signaling pathways crucial for normal limb development. May participate in Wnt signaling.

How are changes in the FBXW4 gene related to health conditions?

UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the FBXW4 gene's known or predicted involvement in human disease.

Defects in FBXW4 are a cause of split-hand/foot malformation type 3 (SHFM3)[1]This link leads to a site outside Genetics Home Reference.. SHFM3 is an autosomal dominant disorder characterized by hypoplasia/aplasia of the central digits with fusion of the remaining digits.

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number		Main Topic
[1]246560This link leads to a site outside Genetics Home Reference.SPLIT-HAND/FOOT MALFORMATION 3
608071This link leads to a site outside Genetics Home Reference.F-BOX AND WD40 DOMAIN PROTEIN 4

Where is the FBXW4 gene located?

Cytogenetic Location: 10q24

Molecular Location on chromosome 10: base pairs 103,370,420 to 103,454,742

The FBXW4 gene is located on the long (q) arm of chromosome 10 at position 24.

The FBXW4 gene is located on the long (q) arm of chromosome 10 at position 24.

More precisely, the FBXW4 gene is located from base pair 103,370,420 to base pair 103,454,742 on chromosome 10.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about FBXW4?

You and your healthcare professional may find the following resources about FBXW4 helpful.

  • Gene TestsThis link leads to a site outside Genetics Home Reference. - Genetic tests ordered by healthcare professionals

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the FBXW4 gene or gene products?

  • DAC
  • FBW4
  • FBWD4
  • SHFM3
  • SHSF3

See How are genetic conditions and genes named? in the Handbook.

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding FBXW4?

autosomal ; autosomal dominant ; autosomal recessive ; bud ; chromosome ; domain ; duplication ; gene ; hypoplasia ; intron ; locus ; malformation ; phenotype ; protein ; pseudogene ; rearrangement ; recessive ; syndactyly ; ubiquitin

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: March 4, 2013