菜单 基因医生

由该基因编码的dna相关蛋白是定位于细胞核的同源盒蛋白成对家族的成员。该蛋白作为一种转录因子参与几个主要去甲肾上腺素能神经元群体的发育和神经递质表型的测定。该基因产物与多巴胺β-羟化酶、c-fos启动子和几种促进剂（包括环腺苷酸反应元件和血清反应元件）的第二信使介导的激活增强有关。该蛋白中20个氨基酸的多赖氨酸束被5-13个氨基酸扩增与先天性中枢性低通气综合征有关。[由RefSeq提供，2016年7月]
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to the nucleus. The protein functions as a transcription factor involved in the development of several major noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and several enhancers, including cyclic amp-response element and serum-response element. Expansion of a 20 amino acid polyalanine tract in this protein by 5-13 aa has been associated with congenital central hypoventilation syndrome. [provided by RefSeq, Jul 2016]