Neurodegeneration with brain iron accumulation 4 (NBIA4) is one of several neurodegenerative diseases associated with the human gene C19orf12. NBIA4 exhibits autosomal recessive inheritance.
UAS constructs of the human Hsap\C19orf12 gene have been introduced into flies, including wild-type and mutant forms. Variant(s) implicated in human disease tested (as transgenic human gene, C19orf12): the G69R variant form has been introduced into flies; this variant is implicated in neurodegeneration with brain iron accumulation 4. The interactions of Hsap\C19orf12 with Hsap\PLA2G6 have been characterized using both the wild-type and variant Hsap\C19orf12 forms.
See the human disease model report for neurodegenerative disease, C19orf12-related (FBhh0000244) for information concerning this and related diseases as modeled in flies.
[updated Mar. 2020 by FlyBase; FBrf0222196]
Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous disorder characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. Age at onset, severity, and cognitive involvement are variable (review by Gregory et al., 2009; pubmed:18981035). [from MIM:234200; 2016.03.29]
[NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4; NBIA4](https://omim.org/entry/614298)
[CHROMOSOME 19 OPEN READING FRAME 12; C19ORF12](https://omim.org/entry/614297)
Brain iron accumulation-4 (NBIA4) is an autosomal recessive neurodegenerative disorder characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms. [from MIM:614298; 2016.04.05]
NBIA4 is caused by homozygous or compound heterozygous mutation in the C19orf12 gene. [from MIM:614298; 2016.04.05]
One to many: 1 human to 2 Drosophila.
