Gene: FBXL7

Alternate names for this Gene: FBL6|FBL7

Gene Summary: This gene encodes a member of the F-box protein family which is characterized by a 42-48 amino acid motif, the F-box, which binds to the S-phase kinase-associated protein 1 (Skp1) protein. The F-box proteins constitute one of the four subunits of E3 ubiquitin protein ligases called SCFs (SKP1-Cul1-F-box), which play a role in phosphorylation-dependent ubiquitination of proteins. The F-box proteins are divided into 3 subfamilies based on the other domain in the protein: F-box proteins that also have a WD-40 domain (Fbws subfamily), F-box proteins that also have leucine-rich repeats (Fbls subfamily) and F-box proteins that contain other motifs or lack known protein-interaction domains (Fbxs subfamily). The protein encoded by this gene belongs to the Fbls subfamily. Alternative splicing results in multiple transcript variants of this gene.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.1

Description of this Gene: F-box and leucine rich repeat protein 7

Type of Gene: protein-coding

rs7721607 in FBXL7 gene and Adverse effects, not elsewhere classified PMID 30420678 2019 Genetic variation in the Estonian population: pharmacogenomics study of adverse drug effects using electronic health records.

rs75002042 in FBXL7 gene and Alzheimer's Disease PMID 26339675 2015 F-box/LRR-repeat protein 7 is genetically associated with Alzheimer's disease.

rs10044254 in FBXL7 gene and Asthma PMID 24486069 2014 However, these 3 SNPs were not additionally replicated in the adult asthmatic patients of the remaining trials. rs10044254 lies in the intronic region of F-box and leucine-rich repeat protein 7 (FBXL7) and is associated with decreased expression in immortalized B cells derived from CAMP participants.

rs147776718 in FBXL7 gene and Chronic Obstructive Airway Disease PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs80333777 in FBXL7 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.

rs12659622 in FBXL7 gene and Hormone measurement PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs12659622 in FBXL7 gene and Polysomnography PMID 23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

rs147776718 in FBXL7 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs80333777 in FBXL7 gene and response to simvastatin PMID 28736931 2018 Genetic Variants in HSD17B3, SMAD3, and IPO11 Impact Circulating Lipids in Response to Fenofibrate in Individuals With Type 2 Diabetes.