FBXO7

Chr 22q12.3

F-box protein 7

Aliases:: FBX7, Fbx, PARK15
MANE:: ENST00000266087.12

OMIM: 605648 ↗NCBI: 25793 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

FBXO7 · Q9Y3I1

v62025-08-01

Predicted Aligned Error matrix for FBXO7 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.4/ 100

Low

522 residues

Confidence breakdown

Very high(≥ 90)13%
Confident(70–90)41%
Low(50–70)13%
Very low(< 50)33%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Adult onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia
BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomal
Early onset dystonia
BIALLELIC, autosomal or pseudoautosomal
Parkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

parkinsonian-pyramidal syndrome
0.75
Parkinson disease
0.57
Dystonia
0.50
primary angle-closure glaucoma
0.38
refractive error
0.24
Abnormality of refraction
0.23
neurodegenerative disease
0.21
hereditary disease
0.19
neoplasm
0.08
hepatocellular carcinoma
0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

F-box only protein 7

Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins and plays a role in several biological processes such as cell cycle, cell proliferation, or maintenance of chromosome stability (PubMed:15145941, PubMed:34791250). Recognizes and ubiquitinates BIRC2 and the cell cycle regulator DLGAP5 (PubMed:15145941, PubMed:16510124, PubMed:22212761). Plays a role downstream of PINK1 in the clearance of damaged mitochondria via selective autophagy (mitophagy) by targeting PRKN to dysfunctional depolarized mitochondria. Promotes MFN1 ubiquitination. Mediates the ubiquitination and proteasomal degradation of UXT isoform 2, thereby impairing the NF-kappa-B signaling pathway (PubMed:33010352). Inhibits NF-kappa-B pathway also by promoting the ubiquitination of TRAF2 (PubMed:22212761). Affects the assembly state and activity of the proteasome in the cells including neurons by ubiquitinating the proteasomal subunit PSMA2 via 'Lys-63'-linked polyubiquitin chains (By similarity). Promotes 'Lys-48'-linked polyubiquitination SIRT7, leading to the hydrogen peroxide-induced cell death (PubMed:36646384)