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HGNC Approved Gene Symbol: COX6C
Cytogenetic location: 8q22.2 Genomic coordinates (GRCh38): 8:99,877,865-99,893,707 (from NCBI)
Cytochrome c oxidase (COX) is the terminal oxidase in the respiratory chain in human and other mammalian cells. The enzyme is composed of 13 different subunits. See 123870. Otsuka et al. (1988) cloned the cDNA for the subunit 6c from a human fibroblast cDNA library by using a synthetic oligonucleotide as a hybridization probe. They found that this mitochondrial protein does not have a presequence that targets mitochondria and that the mature form itself has the property of a presequence.
In a review article, Lenka et al. (1998) noted that the COX VIc subunit is found in all mammalian tissues. The 76-amino acid human COX VIc protein is 69% identical to rat COX VIc.
By fluorescence in situ hybridization and by radiation hybrid mapping, Hofmann et al. (1998) mapped the COX6C gene to 8q22-q23, and a COX6C pseudogene, COX6CP1, to 16p12.
Band 12q15 is often rearranged in benign mesenchymal tumor such as uterine leiomyomas (150699), and the HMGIC gene (608249), which encodes a protein of the high mobility group (HMG), is often found to be fused with another gene. Kurose et al. (2000) demonstrated a novel gene fusion of COX6C at 8q22-q23 to HMGIC at 12q15 in the uterine leiomyoma.
Hofmann, S., Lichtner, P., Schuffenhauer, S., Gerbitz, K.-D., Meitinger, T. Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-q21 by FISH and radiation hybrid mapping. Cytogenet. Cell Genet. 83: 226-227, 1998. [PubMed: 10072584] [Full Text: https://doi.org/10.1159/000015185]
Kurose, K., Mine, N., Doi, D., Ota, Y., Yoneyama, K., Konishi, H., Araki, T., Emi, M. Novel gene fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a uterine leiomyoma. Genes Chromosomes Cancer 27: 303-307, 2000. [PubMed: 10679920] [Full Text: https://doi.org/10.1002/(sici)1098-2264(200003)27:3<303::aid-gcc11>3.0.co;2-3]
Lenka, N., Vijayasarathy, C., Mullick, J., Avadhani, N. G. Structural organization and transcription regulation of nuclear genes encoding the mammalian cytochrome c oxidase complex. Prog. Nucleic Acid Res. Molec. Biol. 61: 309-344, 1998. [PubMed: 9752724] [Full Text: https://doi.org/10.1016/s0079-6603(08)60830-2]
Otsuka, M., Mizuno, Y., Yoshida, M., Kagawa, Y., Ohta, S. Nucleotide sequence of cDNA encoding human cytochrome c oxidase subunit VIc. Nucleic Acids Res. 16: 10916 only, 1988. [PubMed: 2849755] [Full Text: https://doi.org/10.1093/nar/16.22.10916]