C9orf64 (Chromosome 9 open reading frame 64) is a gene located on chromosome 9, that in humans encodes the protein queuosine salvage protein.[1] 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.[1] C9orf64 has been found in 5 different splice variants.[2]
Expression of this gene is highest in the duodenum and small intestine, and it is also expressed in 24 other tissues. [3]
22 variants have been annotated in the NIH Database, ClinVar, linked to disease conditions such as seizures, developmental delay, and muscular hypotonia.[4]
C9orf64 is located on chromosome 9q21.32.[1] The genes closest to C9orf64 on the long arm of chromosome 9 include GKAP1, KIF27, HNRNPK, RMI1, and a MicroRNA MIR7-1.[8]
Cai LY, Abe M, Izumi S, Imura M, Yasugi T, Ushijima T (2007). "Identification of PRTFDC1 silencing and aberrant promoter methylation of GPR150, ITGA8 and HOXD11 in ovarian cancers". Life Sciences. 80 (16): 1458–65. doi:10.1016/j.lfs.2007.01.015. PMID17303177.
Sweetser DA, Peniket AJ, Haaland C, Blomberg AA, Zhang Y, Zaidi ST, Dayyani F, Zhao Z, Heerema NA, Boultwood J, Dewald GW, Paietta E, Slovak ML, Willman CL, Wainscoat JS, Bernstein ID, Daly SB (2005). "Delineation of the minimal commonly deleted segment and identification of candidate tumor-suppressor genes in del(9q) acute myeloid leukemia". Genes, Chromosomes and Cancer. 44 (3): 279–91. doi:10.1002/gcc.20236. PMID16015647.