FBXL3 Chromosome 13
F-box and leucine rich repeat protein 3
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What This Gene Does
This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class and, in addition to an F-box, contains several tandem leucine-rich repeats and is localized in the nucleus. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
F-box and leucine rich repeat proteins
Locus Type
gene with protein product
Location
13q22.3
Ensembl
ENSG00000005812
Associated Conditions (4)
Intellectual disability
short stature
facial anomalies
and joint dislocations
Key Variants
RS1566225872
Pathogenic
Intellectual disability, short stature, facial anomalies
Health Risk
RS2154035941
Pathogenic
Intellectual disability, short stature, facial anomalies
Health Risk
RS374431043
Pathogenic
Intellectual disability, short stature, facial anomalies
Health Risk
RS764008859
Pathogenic
Intellectual disability, short stature, facial anomalies
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1566225872 | Health Risk | Pathogenic | Intellectual disability, short stature, facial anomalies |
| RS2154035941 | Health Risk | Pathogenic | Intellectual disability, short stature, facial anomalies |
| RS374431043 | Health Risk | Pathogenic | Intellectual disability, short stature, facial anomalies |
| RS764008859 | Health Risk | Pathogenic | Intellectual disability, short stature, facial anomalies |