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ADAM17 is an 824-amino acid polypeptide.[5] [6]ADAM17 has multidomain structure that includes a pro-domain, a metallo-protease domain, a disintegrin domain, a cysteine-rich domain, an EGF-like domain, a transmembrane domain, and a cytoplasmic tail.
ADAM17: ADAM17 is understood to be involved in the processing of tumor necrosis factor alpha at the surface of the cell, and from within the intracellular membranes of the trans-Golgi network. ADAM17 also has a role in the shedding of L-selectin, a cellular adhesion molecule. [16] ADAM18
ERT has also been used to treat patients with severe combined immunodeficiency (SCID) resulting from an adenosine deaminase deficiency . [2] Other treatment options for patients with enzyme or protein deficiencies include substrate reduction therapy, gene therapy, and bone-marrow derived stem cell transplantation. [1] [3] [4]
The ADAM family of proteases is receiving increased attention for their ability to alter the balance between pro-and anti-angiogenic factors. ADAM17 is able to release active tumor necrosis factor-alpha (TNFα) and heparin-binding EGF-like growth factor (HB-EGF) from their membrane bound precursors which can indirectly affect angiogenesis. [30]
These features of mineralocorticoid excess are the major clinical clues distinguishing the more complete 17α-hydroxylase deficiency from the 17,20-lyase deficiency, which only affects the sex hormones. Treatment with glucocorticoid suppresses ACTH, returns mineralocorticoid production toward normal, and lowers blood pressure. [8]
This is a list of primary immunodeficiencies (PID), which are immune deficiencies that are not secondary to another condition.. The International Union of Immunological Societies recognizes nine classes of primary immunodeficiencies, totaling approximately 430 conditions.
83433 Ensembl ENSG00000095970 ENSMUSG00000023992 UniProt Q9NZC2 Q99NH8 RefSeq (mRNA) NM_001271821 NM_018965 NM_001272078 NM_031254 RefSeq (protein) NP_001258750 NP_061838 NP_001259007 NP_112544 Location (UCSC) Chr 6: 41.16 – 41.16 Mb Chr 17: 48.65 – 48.66 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Triggering receptor expressed on myeloid cells 2 (TREM2) is a protein that in ...
Isolated 17,20-lyase deficiency is a rare disorder caused by genetic mutations in the gene CYP17A1, while not affecting 17α-hydroxylase. [ 2 ] [ 4 ] [ 6 ] [ 7 ] Isolated 17,20 lyase deficiency is a rare disease with only a small number of confirmed reports due to mutations in the CYP17A1 gene.