Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt

Gene Ontology annotation based on curation of immunofluorescence data

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy.

Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.

Mutations of C19orf12, coding for a transmembrane glycine zipper containing mitochondrial protein, cause mis-localization of the protein, inability to respond to oxidative stress and increased mitochondrial Ca²⁺.

Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context.

A spatiotemporal proteomic map of human adipogenesis.

UniProtKB Q9NSK7: Protein C19orf12