其他名称： NEUROG3; ATOH5; BHLHA7; NGN3; Neurogenin-3; NGN-3; Class A basic helix-loop-helix protein 7; bHLHa7; Protein atonal homolog 5
信号通路： Maturity onset diabetes of the young;
功能： disease:Defects in NEUROG3 are the cause of congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]. DIAR4 is an autosomal recessive disorder characterized by generalized malabsorption and a paucity of enteroendocrine cells. Patients with congenital diarrhea generally present within the first weeks after birth with severe, life-threatening watery diarrhea that can be classified as either secretory or malabsorptive in nature. Routine clinical evaluation, including intestinal biopsy, may be used to further categorize the diarrhea according to the severity of the inflammation and to assess the integrity of the crypt-villus axis and the architecture of the epithelial layer. On the basis of both clinical and pathological characteristics, various specialized formulas may be used to minimize the diarrheal symptoms, although some children require extended periods of intravenous nutrition to sustain normal growth and development.,function:Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Efficient DNA binding requires dimerization with another bHLH protein.,
其他名称： NEUROG3; ATOH5; BHLHA7; NGN3; Neurogenin-3; NGN-3; Class A basic helix-loop-helix protein 7; bHLHa7; Protein atonal homolog 5
信号通路： Maturity onset diabetes of the young;
功能： disease:Defects in NEUROG3 are the cause of congenital malabsorptive diarrhea 4 (DIAR4) [MIM:610370]. DIAR4 is an autosomal recessive disorder characterized by generalized malabsorption and a paucity of enteroendocrine cells. Patients with congenital diarrhea generally present within the first weeks after birth with severe, life-threatening watery diarrhea that can be classified as either secretory or malabsorptive in nature. Routine clinical evaluation, including intestinal biopsy, may be used to further categorize the diarrhea according to the severity of the inflammation and to assess the integrity of the crypt-villus axis and the architecture of the epithelial layer. On the basis of both clinical and pathological characteristics, various specialized formulas may be used to minimize the diarrheal symptoms, although some children require extended periods of intravenous nutrition to sustain normal growth and development.,function:Involved in neurogenesis. Also required for the specification of a common precursor of the 4 pancreatic endocrine cell types.,similarity:Contains 1 basic helix-loop-helix (bHLH) domain.,subunit:Efficient DNA binding requires dimerization with another bHLH protein.,
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