This gene encodes a small heme protein that functions as a central component of the electron transport chain in mitochondria. The encoded protein associates with the inner membrane of the mitochondrion where it accepts electrons from cytochrome b and transfers them to the cytochrome oxidase complex. This protein is also involved in initiation of apoptosis. Mutations in this gene are associated with autosomal dominant nonsyndromic thrombocytopenia. Numerous processed pseudogenes of this gene are found throughout the human genome.
Cytochrome c is a 12-15 kDa electron transporting protein located in the inner mitochondrial membrane. Upon apoptotic stimulation,cytochrome c can be released from mitochondria into cytoplasm,resulting in caspase-3 activation and apoptosis. Measurement of cytochrome c release from the mitochondria is useful for detection of the onset of apoptosis in cells. In addition,cytochrome c can also leave cells and be detectable in extra-cellular medium of apoptotic cells and serum of cancer patients. The level of serum cytochrome c may serve as a prognostic maker during cancer therapy.
CYP2D6(Cytochrome P450 2D6) is also named as CYP2DL1 and belongs to the cytochrome P450 family. It is a monooxygenase that involved in the metabolism of drugs such as antiarrhythmics,adrenoceptor antagonists,and tricyclic antidepressants. CYP2D6 is responsible for the metabolism of many drugs and environmental chemicals that it oxidizes. It has 2 isoforms produced by alternative splicing with the molecular weight of 56 kDa and 50 kDa.
Cytokeratin 10 (CK10) has a molecular weight of 56.5KDa and is mainly marked on the basal and granular cell layers of the epithelium. Meanwhile, the expression of CK10 is proportional to the degree of cell differentiation, and the highly differentiated ones are often positive, which is mainly used in the diagnosis of squamous cell carcinoma.
This gene encodes a member of the type I (acidic) cytokeratin family, which belongs to the superfamily of intermediate filament (IF) proteins. Keratins are heteropolymeric structural proteins which form the intermediate filament. These filaments, along with actin microfilaments and microtubules, compose the cytoskeleton of epithelial cells. Mutations in this gene are associated with epidermolytic hyperkeratosis. This gene is located within a cluster of keratin family members on chromosome 17q21.
This gene encodes a member of the keratin family, the most diverse group of intermediate filaments. This gene product, a type I keratin, is usually found as a heterotetramer with two keratin 5 molecules, a type II keratin. Together they form the cytoskeleton of epithelial cells. Mutations in the genes for these keratins are associated with epidermolysis bullosa simplex. At least one pseudogene has been identified at 17p12-p11.
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