Cystatin C is a member of family 2 of the Cystatin superfamily . It is involved in processes such as tumor invasion and metastasis, inflammation and some neurological diseases. It inhibits many cysteine proteases such as papain and cathepsins B, H, K, L, and S.
The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a type 2 salivary cysteine peptidase inhibitor. The protein is an S-type cystatin, based on its high level of expression in saliva, tears and seminal plasma. The specific role in these fluids is unclear but antibacterial and antiviral activity is present, consistent with a protective function.
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.
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.
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.
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