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A2ML1
Alpha-2-macroglobulin-like 1 abbreviated as α2ML1 is a protein that in humans is encoded by the A2ML1 gene. α2ML1 is a large, 180 kDa protein found in the Epidermis (skin), epidermis. It is able to the inhibit the chymotryptic activity of KLK7. Function This gene encodes a member of the alpha-macroglobulin superfamily. The encoded protein acts as an inhibitor for several proteases, and has been reported as the p170 antigen recognized by autoantibodies in the autoimmune disease paraneoplastic pemphigus (PNP). Alternative splicing results in multiple transcript variants. Clinical significance Mutations in A2ML1 are associated to Noonan syndrome, Noonan-like syndrome. References External links * Further reading * * * Protease inhibitors {{gene-12-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Paraneoplastic Pemphigus
Paraneoplastic pemphigus (PNP) is an autoimmune disorder stemming from an underlying tumor. It is hypothesized that antigens associated with the tumor trigger an immune response resulting in blistering of the skin and mucous membranes. While patients with malignant and benign tumors are both at risk, malignancy is associated with high mortality rates (near 90%). Current treatment focuses on general wound healing and administering corticosteroids, which has not demonstrated a high success rate. Recent research developments aim to treat the underlying tumor in order to alleviate the symptoms of PNP. Signs and symptoms While the presence of lesions is the denominator among patients with PNP, the characteristics of the lesions differ. The five clinical presentations of lesions associated with PNP include: * "Pemphigus-like": Flaccid blister (discrete), crusts over the raw exuding skin lesions * "Pemphigoid-like": Tense blister(s) on brick red erythema * "Erythema multiforme-like": Sev ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |