Cofactor:Copper A.,disease:Defects in MT-CO2 are a cause of cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]; also called mitochondrial complex IV deficiency. COX deficiency is a clinically heterogeneous disorder. The clinical features are ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood.,disease:Defects in MT-CO2 are associated with tumor formation.,Cytochrome c oxidase is the component of the respiratory chain that catalyzes the reduction of oxygen to water. Subunits 1-3 form the functional core of the enzyme complex. Subunit 2 transfers the electrons from cytochrome c via its binuclear copper A center to the bimetallic center of the catalytic subunit 1.,similarity:Belongs to the cytochrome c oxidase subunit 2 family.
MTF2, also named as Metal-response element-binding transcription factor 2, is a 593 amino acid protein. It exists several isoforms and the range of the molecular weight of isoforms are about 55-60 kDa and 29 kDa. MTF2 contains 2 PHD-type zinc fingers and belongs to the Polycomblike family. MTF2 acts by binding to H3K36me3, a mark for transcriptional activation, and recruiting the PRC2 complex, leading to enhance PRC2 H3K27me3 methylation activity and regulates the transcriptional networks during embryonic stem cell self-renewal and differentiation.
The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. The ANGPTL7 gene is located in an intron of this gene.
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants.
This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. TFAM (Transcription Factor A, Mitochondrial) is a Protein Coding gene. Diseases associated with TFAM include Mitochondrial Dna Depletion Syndrome 15, Hepatocerebral Type and Skin Carcinoma In Situ. Among its related pathways are Mitochondrial Gene Expression and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. GO annotations related to this gene include poly(A) RNA binding and chromatin binding.
MTX3 may be involved in the process of transporting proteins to the mitochondrion.
Mucin 13 (MUC13) is a high-molecular-weight transmembrane glycoprotein that is frequently and aberrantly expressed in a variety of epithelial carcinomas, including gastric, colorectal, and ovarian cancers. On the basis of the high expression of MUC13 in cancer cells as well as recent laboratory findings suggesting a malignant phenotype of MUC13-transfected cell lines, the oncogenic potential of MUC13 has emerged. The various functional domains of MUC13 may confer oncogenic potential to MUC13. MUC13 exhibits the characteristics suitable as an early marker for cancer screening and presents a promising target for antibody-guided targeted therapy.
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