功能： disease:Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. Most mutations consist of 5-10 alanine expansions in the poly-Ala region from amino acids 241-260. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases.,disease:Defects in PHOX2B predispose to hereditary neuroblastoma (NB) [MIM:256700]. NB is a tumor of the sympathetic nervous system that account for about 10% of all cancers in childhood. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-derived cells-namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS).,function:Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.,similarity:Belongs to the paired homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Expressed in neuroblastoma, brain and adrenal gland.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
组织表达： Expressed in neuroblastoma, brain and adrenal gland.
功能： disease:Defects in PHOX2B are a cause of congenital central hypoventilation syndrome (CCHS) [MIM:209880]; also known as congenital failure of autonomic control or Ondine curse. Most mutations consist of 5-10 alanine expansions in the poly-Ala region from amino acids 241-260. CCHS is a rare disorder characterized by abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. CCHS is frequently complicated with neurocristopathies such as Hirschsprung disease that occurs in about 16% of CCHS cases.,disease:Defects in PHOX2B predispose to hereditary neuroblastoma (NB) [MIM:256700]. NB is a tumor of the sympathetic nervous system that account for about 10% of all cancers in childhood. Germline mutations of predisposing gene(s) are suspected on the basis of rare familial cases and the association of NB with other genetically determined congenital malformations of neural crest-derived cells-namely, Hirschsprung disease (HSCR) and/or congenital central hypoventilation syndrome (CCHS).,function:Involved in the development of several major noradrenergic neuron populations, including the locus coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers including cAMP-response element and serum-response element.,similarity:Belongs to the paired homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Expressed in neuroblastoma, brain and adrenal gland.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus .
组织表达： Expressed in neuroblastoma, brain and adrenal gland.
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