FASTKD2

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]

Full Name

FAST Kinase Domains 2

Research Area

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, PubMed:25683715, PubMed:26370583).

May play a role in mitochondrial apoptosis.

Biological Process

Apoptotic process Source: UniProtKB
Mitochondrial large ribosomal subunit assembly Source: UniProtKB
Mitochondrial translation Source: UniProtKB
Positive regulation of mitochondrial translation Source: UniProtKB
Regulation of mitochondrial mRNA stability Source: InterPro
RNA processing Source: UniProtKB

Cellular Location

Mitochondrion nucleoid; Mitochondrion matrix. Localizes to mitochondrial RNA granules found in close proximity to the mitochondrial nucleoids.

Involvement in disease

Combined oxidative phosphorylation deficiency 44 (COXPD44):
An autosomal recessive mitochondrial disorder characterized by onset in infancy or early childhood of global developmental delay, hypotonia, and abnormal movements. Combined oxidative phosphorylation deficiency is present in skeletal muscle. Most patients have seizures associated with status epilepticus. Additional variable features include optic atrophy, hypertrophic cardiomyopathy, stroke-like episodes, and increased lactate levels in serum and cerebrospinal fluid.