FASTKD2 gene

FAST kinase domains 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

Plays an important role in assembly of the mitochondrial large ribosomal subunit (PubMed:25683715).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency

Cytogenetic Location: 2q33.3, which is the long (q) arm of chromosome 2 at position 33.3

Molecular Location: base pairs 206,765,388 to 206,796,189 on chromosome 2 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 2q33.3, which is the long (q) arm of chromosome 2 at position 33.3
  • KIAA0971