Gene: FBXO7

Alternate names for this Gene: FBX|FBX07|FBX7|PARK15|PKPS

Gene Summary: 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 the 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 Fbxs class and it may play a role in regulation of hematopoiesis. Alternatively spliced transcript variants of this gene have been identified with the full-length natures of only some variants being determined.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: F-box protein 7

Type of Gene: protein-coding

rs5754109 in FBXO7 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs1029298 in FBXO7 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs149388997 in FBXO7 gene and Finding of Mean Corpuscular Hemoglobin PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs11107 in FBXO7 gene and Mean Corpuscular Volume (result) PMID 22560525 2012 Genetic Loci implicated in erythroid differentiation and cell cycle regulation are associated with red blood cell traits.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 28017375 2017 Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.

rs71799110 in FBXO7 gene and PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE (disorder) PMID 23279440 2013 EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease.

PMID 23933751 2013 The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy.

PMID 18513678 2008 Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.