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Indicators
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 androgen, required for sex development. Dihydrotestosterone is synthesized from testosterone in the prostate gland, testes, hair follicles and adrenal glands by 5-alpha reductase. Dihydrotestosterone exerts its action similar to testosterone, which binds to and activates specific nuclear androgen receptors. After translocation into the nucleus, the activated hormone-receptor complex binds to the androgen response elements on the DNA and activates gene expressions that are required for sex development. Dihydrotestosterone is responsible for the formation of male primary sex characteristics and most male secondary sex characteristics during puberty, such as muscular growth, facial and body hair growth, and deepening of the voice.
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This gene is involved in the maintenance of genomic integrity and nuclear signal transduction. Allelic variants of the gene are involved in Fanconi syndrome.
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This gene is involved in protein phosphorylation.
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An anti-nuclear autoantibody that recognizes a 70 kDa fragment of DNA topoisomerase 1. It is associated with scleroderma.
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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.
Indicators
This gene plays a role in the regulation of nuclear export.
