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FB2026_02
,
released June 18, 2026
This report describes Parkinson disease 15 (PARK15) which is a subtype of Parkinson disease; PARK15 exhibits autosomal recessive inheritance. The human gene implicated in this disease is FBXO7, which contributes to phosphorylation-dependent ubiquitination as a component of a ubiquitin protein ligase complex. Familial PARK15 is inherited as an autosomal recessive. There is no gene orthologous to FBXO7 in Drosophila, although there are multiple F-box genes with similar function.
Multiple different UAS constructs of the human Hsap\FBXO7 gene have been introduced into flies, including the wild-type and genes carrying mutational lesions implicated in PARK15. Variant(s) implicated in human disease tested (as transgenic human gene, FBXO7): the T22M, R378G, and R498(term) variant forms have been introduced into flies. Genetic interactions of Hsap\FBXO7 with Drosophila genes orthologous to human genes implicated in other forms of Parkinson disease have been characterized.
The Drosophila gene ntc has been investigated in the context of this disease model. ntc shares sequence similarity with FBXO7 within the F-box domain and appears to play the same role as an E3 ubiquitin ligase.
[updated Apr. 2021 by FlyBase; FBrf0222196]
Parkinson disease (PD) is a neurodegenerative disease usually typified by slow onset in mid to late adulthood; there are also early-onset and juvenile forms of the disease. Symptoms worsen over time and include resting tremor, muscular rigidity, bradykinesia [abnormal slowness of movement], and postural instability [impaired balance and coordination]; additional symptoms may include postural abnormalities, dysautonomia [symptoms caused by malfunction of the autonomic nervous system], dystonic cramps, and dementia. Parkinson disease is the second-most common neurodegenerative disease (after Alzheimer disease), affecting approximately 1% of the population over 50 (Polymeropoulos et al., 1996, pubmed:8895469). [from MIM:168600; 2013.07.23]
Parkinson disease is described as early-onset disease if signs and symptoms begin before age 50. Early-onset cases that begin before age 20 may be referred to as juvenile-onset disease. [from Genetics Home Reference, GHR_condition:parkinson-disease, 2015.02.13]
[PARKINSON DISEASE 15, AUTOSOMAL RECESSIVE EARLY-ONSET; PARK15](https://omim.org/entry/260300)
[F-BOX ONLY PROTEIN 7; FBXO7](https://omim.org/entry/605648)
Parkinson disease 15 is an early-onset form of the disorder. [from MIM:260300; 2015.03.04]. See general description of Parkinson disease symptoms and phenotype, above.
PARK15 is inherited as an autosomal recessive; it is caused by mutation in the FBXO7 gene [from MIM:260300; 2015.03.04].
FBXO7 contains an F-box domain; F-box proteins are typically components of E3 ubiquitin protein ligase complexes, which function in phosphorylation-dependent ubiquitination. [from MIM:605648; 2015.03.04].
No gene orthologous to human FBXO7 in Drosophila.
Putative homolog of human FBXO7; no human orthologs identified by standard algorithms. Shares sequence similarity with FBXO7 within the F-box domain; appears to play the same role as an E3 ubiquitin ligase.