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A disintegrin and metalloprotease 17 (ADAM17), also called TACE (tumor necrosis factor-α-converting enzyme), is a 70-kDa enzyme that belongs to the ADAM protein family of disintegrins and metalloproteases, activated by substrate presentation.
The symptoms of isolated 17,20-lyase deficiency, in males, include pseudohermaphroditism (i.e., feminized, ambiguous, or mildly underdeveloped (e.g., micropenis, perineal hypospadias, and/or cryptorchidism (undescended testes)) external genitalia), female gender identity, and, in non-complete cases of deficiency where partial virilization occurs, gynecomastia up to Tanner stage V (due to low ...
ADAMs (short for a disintegrin and metalloproteinase) are a family of single-pass transmembrane and secreted metalloendopeptidases. [1] [2] All ADAMs are characterized by a particular domain organization featuring a pro-domain, a metalloprotease, a disintegrin, a cysteine-rich, an epidermal-growth factor like and a transmembrane domain, as well as a C-terminal cytoplasmic tail. [3]
Hyper-IgD syndrome (Mevalonate kinase deficiency) CIAS1-related diseases: Muckle–Wells syndrome; Familial cold autoinflammatory syndrome, types 1, 2, 3, and 4; Neonatal onset multisystem inflammatory disease; NLRP1 deficiency; PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, acne) ADAM17 deficiency; Blau syndrome
Clinical features depend on the molecular pathology of the particular CDG subtype. Common manifestations include ataxia; seizures; retinopathy; liver disease; coagulopathies; failure to thrive (FTT); dysmorphic features (e.g., inverted nipples and subcutaneous fat pads); pericardial effusion, skeletal abnormalities, and hypotonia.
ADAM 17 endopeptidase (EC 3.4.24.86, tumor necrosis factor alpha-converting enzyme, TACE) is an enzyme. [1] This enzyme catalyses the following chemical reaction. Narrow endopeptidase specificity.
Symptoms of severe forms of PORD include ambiguous genitalia in males and females, congenital adrenal hyperplasia, cortisol deficiency, and Antley–Bixler skeletal malformation syndrome (ABS), while symptoms of mild forms include polycystic ovary syndrome in women and hypogonadism in men. [3]
Arakawa's syndrome II has an autosomal dominant pattern of inheritance.. Arakawa's syndrome II is inherited in an autosomal dominant manner. This means the defective gene responsible for disorder is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who has the disorder.