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A small non-essential amino acid in humans, Alanine is one of the most widely used for protein construction and is involved in the metabolism of tryptophan and vitamin pyridoxine. Alanine is an important source of energy for muscles and central nervous system, strengthens the immune system, helps in the metabolism of sugars and organic acids, and displays a cholesterol-reducing effect in animals. (NCI04)
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Alpha-1-acid glycoprotein 1 (201 aa, ~24 kDa) is encoded by the human ORM1 gene. This protein may play a role in immunosuppression and small molecule transport.
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An antinuclear antibody directed against small nuclear ribonucleoproteins (snRNPs), that is highly specific, but has poor sensitivity for systemic lupus erythematosus (SLE). Presence of anti-Sm antibodies are associated with central nervous system, kidney, lung and cardiac involvement in SLE, but are not indicative of disease activity.
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The most potent form of the naturally occurring steroid sex hormone in humans, produced by ovary, placenta, testis, and in small amount by adrenal cortex. Estradiol binds to a specific intracellular estrogen receptor located in female organs, breasts, hypothalamus and pituitary. The receptor-ligand complex promotes gene expression necessary for the maintenance of fertility and secondary sexual characteristics in females. In addition, estradiol exhibits mild anabolic and metabolic properties, and increases blood coagulability. Estradiol, the principal intracellular human estrogen, is substantially more active at the cellular level than its metabolites, estrone and estriol.
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This gene is involved in transcriptional regulation and is frequently amplified in small-cell lung cancer.
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Tumor-associated oncofetal glycoprotein 72 (TAG-72) is a high molecular weight (220-400 kD) complex expressed by a wide variety of human adenocarcinomas. This antigen is expressed by a majority of invasive ductal breast carcinomas, and most colon, pancreatic, gastric, esophageal, lung (non-small cell), ovarian and endometrial adenocarcinomas, and on normal secretory endometrium, but not on other normal tissues. It is not expressed by leukemias, lymphomas, sarcomas, mesotheliomas, melanomas or benign tumors. The monoclonal antibodies against TAG-72 have been widely employed for the immunohistochemical analysis of adenocarcinomas as well as for radioimmunoscintigraphy and radioimmunoguided surgery.
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This gene is involved in the splicing of mRNA.
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This gene is involved in RNA binding and pre-mRNA splicing.