Results for Enzymes ( 22565 )
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Glutamate Oxaloacetate Transaminase 1 (GOT1) is a cytoplasmic protein. GOT1 belongs to the class-I pyridoxal-phosphate-dependent aminotransferase family. GOT1 is a pyridoxal phosphate-dependent enzyme that exists in cytoplasmic and mitochondrial forms. GOT1 plays a key role in amino acid metabolism and the urea and tricarboxylic acid cycles. GOT1 involves in L-methionine salvage from methylthioadenosine, aspartate catabolic process, cellular response to insulin stimulus, polyamine metabolic process, and glucocorticoid stimulus.
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Degrades extracellular matrix. Proposed to play a role in breast cancer invasion and metastasis. Exhibits trypsin-like activity as defined by cleavage of synthetic substrates with Arg or Lys as the P1 site.Defects in ST14 are a cause of ichthyosis autosomal recessive with hypotrichosis (ARIH). ARIH is a skin disorder characterized by congenital ichthyosis associated with the presence of less than the normal amount of hair.
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HRas, also known as HRAS, belongs to the small GTPase superfamily, Ras family and is widely expressed. It functions in signal transduction pathways. HRas can bind GTP and GDP, and they have intrinsic GTPase activity. It undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Defects in HRAS are the cause of faciocutaneoskeletal syndrome (FCSS). FCSS is arare condition characterized by prenatally increased growth, postnatal growth deficiency, mental retardation, distinctive facial appearance, cardiovascular abnormalities, tumor predisposition, skin and musculoskeletal abnormalities. Defects in HRAS also can cause congenital myopathy with excess of muscle spindles. HRAS deficiency may be a cause of susceptibility to Hurthle cell thyroid carcinoma. It has been shown that defects in HRAS can cause susceptibility to bladder cancer which is a malignancy