Aliases for FASTKD2 Gene
External Ids for FASTKD2 Gene
Previous HGNC Symbols for FASTKD2 Gene
Previous GeneCards Identifiers for FASTKD2 Gene
This gene encodes a protein that is localized in the mitochondrial inner compartment and that may play a role in mitochondrial apoptosis. Nonsense mutations have been reported to result in cytochrome c oxidase deficiency. [provided by RefSeq, Oct 2008]
GeneCards Summary for FASTKD2 Gene
FASTKD2 (FAST Kinase Domains 2) is a Protein Coding gene. Diseases associated with FASTKD2 include Combined Oxidative Phosphorylation Deficiency 44 and Fastkd2-Related Infantile Mitochondrial Encephalomyopathy. Gene Ontology (GO) annotations related to this gene include protein kinase activity. An important paralog of this gene is FASTKD1.
UniProtKB/Swiss-Prot Summary for FASTKD2 Gene
Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715). As a component of a functional protein-RNA module, consisting of RCC1L, NGRN, RPUSD3, RPUSD4, TRUB2, FASTKD2 and 16S mitochondrial ribosomal RNA (16S mt-rRNA), controls 16S mt-rRNA abundance and is required for intra-mitochondrial translation (PubMed:27667664).