ⓘ C9orf64

                                     

ⓘ C9orf64

C9orf64 is a gene located on chromosome 9, that in humans encodes the protein queuosine salvage protein. The function and biological process of the queuosine salvage protein is not well understood by the scientific community, but some evidence from orthologs indicates it may be involved in tRNA processing. The most common mRNA contains 4 coding exons, and it has 2 additional alternatively spliced exons. C9orf64 has been found in 5 different splice variants.

Expression of this gene is observed in the duodenum and small intestine, is also expressed in 24 other tissues.

22 variants were annotated in the nih database, ClinVar, associated with the conditions of the disease, such as seizures, developmental delay, muscular hypotonia.