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19號(hào)染色體開放閱讀框42抗體免 疫 原；KLH conjugated synthetic peptide derived from human C19orf42: 18-60/75
脫氧鳥苷激酶抗體注意事項(xiàng)；This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Function: Mitochondrial deoxyguanosine kinase (DGUOK) is required for the phosphorylation of several deoxyribonucleosides and certain purine deoxykribonucleoside analogs widely employed as antiviral and chemotherapeutic agents. Purine deoxyribonucleoside analogs are extensively used in treatment of lymphoproliferative disorders. These compounds are administered as pro-drugs, and their efficiency is dependent on intracellular phosphorylation to the corresponding triphosphates. In mammalian cells, the phosphorylation of purine deoxyribonucleosides is mediated predominantly by 2 deoxyribonucleoside kinases: cytosolic deoxycytidine kinase (DCK) and mitochondrial deoxyguanosine kinase (DGUOK also known as DGK). DGUOK expression is ubiquitous, with highest levels in muscle, brain, liver and lymphoid tissues. Defects in DGUOK are a cause of mitochondrial DNA depletion syndrome (MDS). MDS is a clinically heterogeneous group of disorders characterized by a reduction in mitochondrial DNA (mtDNA) copy number. Primary mtDNA depletion is inherited as an autosomal recessive trait and may affect single organs, typically muscle or liver, or multiple tissues. Mitochondrial DNA depletion syndromes are phenotypically heterogeneous, autosomal recessive disorders characterized by tissue-specific reduction in mtDNA copy number. Affected individuals with the hepatocerebral form of mtDNA depletion syndrome have early progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids.
19號(hào)染色體開放閱讀框29抗體免 疫 原；KLH conjugated synthetic peptide derived from human Cactin/C19orf29: 251-350/758
無胸腺癥關(guān)鍵蛋白6樣抗體（迪格奧爾格綜合征）免 疫 原；KLH conjugated synthetic peptide derived from human DGCR6L: 31-130/220
19號(hào)染色體開放閱讀框25抗體免 疫 原；KLH conjugated synthetic peptide derived from human C19orf25: 3-80/118
橋粒芯糖蛋白4抗體注意事項(xiàng)；This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. Function: DSG4(Desmoglein 4) is a component of intercellular desmosome junctions. DSG4 is involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. DSG4 coordinates the transition from proliferation to differentiation in hair follicle keratinocytes. The essential role of desmoglein 4 in skin was established by identifying mutations in families with inherited hypotrichosis, as well as in the lanceolate hair mouse. The human desmoglein 4 gene (DSG4) demonstrates that it is composed of 16 exons spanning approximately 37 kb of 18q12 and is situated between DSG1 and DSG3. Defects in DSG4 are the cause of localized autosomal hypotrichosis (LAH). LAH is an autosomal recessive skin disorder. DSG4 is one of the target molecules recognized by autoantibodies in patients with pemphigus vulgaris. Pemphigus vulgaris is a potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion.
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