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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.
Like other forms of CAH, 17α-hydroxylase deficiency impairs the efficiency of cortisol synthesis, resulting in high levels of ACTH secretion and hyperplasia of the adrenal glands. Clinical effects of this condition include overproduction of mineralocorticoids and deficiency of prenatal and pubertal sex hormones. [citation needed]
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
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 ...
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.
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.
Autosomal dominant GTP cyclohydrolase I deficiency; Other names: Autosomal dominant Segawa syndrome (the autosomal recessive form of Segawa syndrome is caused by mutations in a different gene that encodes tyrosine hydroxylase), Dopa-responsive dystonia 5a, Autosomal dominant DYT/PARK-GCH1 (designation in accordance with the Nomenclature of Genetic Movement Disorders maintained by the ...