| Primary Identifier | IPR033369 | Type | Family |
| Short Name | C19orf12 |
| description | C19orf12 codes for a transmembrane glycine zipper-containing mitochondrial protein of unknown function. Mutations of C19orf12 cause inability to respond to oxidative stress and increased mitochondrial Ca2+ []. Mutations in C19orf12 have been identified in patients affected by Neurodegeneration with Brain Iron Accumulation (NBIA), a condition characterised by iron accumulation in the basal ganglia []. Transgenic flies with impaired C19orf12 homologues also show the neurodegenerative phenotype []. This family also includes protein Nazo from Drosophila melanogaster, an orthologue of human C190rf12 which functions as an antiviral effector protein expressed downstream of Sting and Rel (Relish) signalling in response to viral infection []. |
