A number of neurodegenerative diseases are associated with defects in the mitochondrial membrane protein, C19orf12. See links in 'Related Diseases' for information on specific diseases. This report describes fly disease models using Dmel\Nazo and Dmel\CG3740, the fly orthologs of C19orf12. RNAi-targeting constructs are available for both Drosophila genes; an insertional mutation of CG3740 is also available.
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 (FBhh0000228). The interactions of Hsap\C19orf12 with Hsap\PLA2G6 have been characterized using both the wild-type and variant Hsap\C19orf12 forms.
Animals carrying UAS-RNAi constructs targeted against both Nazo and CG3740 exhibit a reduced lifespan, acceleration of normal age-related locomotor impairment, and "bang sensitivity". In histological examination of adult brains signs of neurodegeneration are observed, but iron accumulation is not observed. Several physical interactions have been described, including between Nazo and CG3740 proteins; see below and in the respective gene reports.
[updated Mar. 2020 by FlyBase; FBrf0222196]
One to many: 1 human to 2 Drosophila.
One of two Drosophila orthologs of human gene C19orf12 (2 Drosophila to 1 human). Dmel\CG11671 shares 28% identity and 55% similarity with human C19orf12; both are small proteins 142-150 aa in length.
One of two Drosophila orthologs of human gene C19orf12 (2 Drosophila to 1 human). Dmel\CG3740 shares 37% identity and 64% similarity with human C19orf12; both are small proteins 142-150 aa in length.
