Neurodegeneration with brain iron accumulation 2B (NBIA2B) is one of several neurodegenerative diseases associated with the human gene PLA2G6. NBIA2B exhibits autosomal recessive inheritance.
UAS constructs of the human Hsap\PLA2G6 have been introduced into flies, including wild-type and mutant forms. A variant implicated in NBIA2B and perhaps other PLA2G6-related diseases has been characterized. Variant(s) implicated in human disease tested (as transgenic human gene, PLA2G6): the A80T variant form has been introduced into flies.
See the human disease model report for neurodegenerative disease, PLA2G6-related (FBhh0000243) 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 2B; NBIA2B](https://omim.org/entry/610217)
[PHOSPHOLIPASE A2, GROUP VI; PLA2G6](https://omim.org/entry/603604)
See general description above. NBIA2B exhibits later onset and more heterogeneous phenotypes than NBIA2A (MIM:256600). [from MIM:610217; 2016.04.05]
NBIA2B is caused by homozygous or compound heterozygous mutation in the PLA2G6 gene (phospholipase A2, group VI). [from MIM:610217; 2016.04.05]
One to one: 1 human to 1 Drosophila.
