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FB2026_01
,
released March 12, 2026
Whole-exome sequencing analysis of early onset Parkinson patients identified a statistically significant number of de novo mutations in the NUS1 gene. NUS1 encodes a transmembrane domain receptor that is a subunit of an enzymatic complex required for the biosynthesis of several classes of glycoproteins. There is a single orthologous gene in Drosophila, Tango14, for which RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. NUS1 is also implicated in a subtype of congenital disorder of glycosylation (MIM:617082) and a form of syndromic intellectual disability with seizures (MIM:617831).
The human NUS1 gene has not been introduced into flies.
In Drosophila, a loss-of-function allele of Dmel\Tango14 is a recessive lethal. Pan-neuronal knockdown of Tango14, effected by RNAi, results in locomotor defects in adults, progressive loss of dopaminergic neurons in adult brains, and reduction of brain dopamine levels. A single genetic interaction has been reported for Dmel\Tango14; see the Tango14 gene report.
[updated Mar. 2019 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]
NUS1 encodes a type I single transmembrane domain receptor that is a subunit of an enzymatic complex (Dehydrodolichyl Diphosphate Synthase Complex) required for the biosynthesis of several classes of glycoproteins. [Gene Cards, NUS1; Gene Cards, DHDDS; 2019.03.26]
One to one: 1 human to 1 Drosophila.
High-scoring ortholog of human NUS1 (1 Drosophila to 1 human). Dmel\Tango14 shares 27% identity and 40% similarity with the human gene.