【摘要】 黑素皮质素受体-2(MC2R)具有7个跨膜区(Ⅰ~Ⅶ)、3个胞外环和3个胞内环,人MC2R基因定位于18p11·2;编码区长894bp,无内含子,在种间和种内具有较高保守性;人MC2R有297个氨基酸残基,推测分子量为33kD.MC2R主要分布于肾上腺皮质区网状带和束状带,在功能上与腺苷酸环化酶偶联,通过激活依赖环腺苷酸的信号途径来催化类固醇合成;MC2R合成受到各种因子调节,包括其自身配体ACTH、顺式作用元件和反式作用因子等.MC2R基因突变可导致Ⅰ型家族性糖皮质激素缺乏症;迄今为止,在FGD患者中共发现37个MC2R基因编码区突变,突变单独或复合存在降低MC2R活性.更多还原

【Abstract】 The melanocortin-2 receptor is a protein with 7 transmembrans(Ⅰ～Ⅶ). Human MC2R Gene is located on the short arm 11.2 of chromosome 18,which does not contain introns within the 849bp coding sequence and has higher conservation between spaces or in one space.hMC2R has 297 amino acid residues, the presumable molecular weight is 33kD. The MC2R is mainly expressed in the adrenal fasciculate and reticularis zones, where it mediates the effects of ACTH on steroid secretion. The cell-selective express of MC2R appears to be under the control of several factors, includes its ligand(ACTH),cis-acting elements and trans-acting factors et al. The mutation of MC2R gene can results in Familial Glucocorticoid Deficiency(FAD); so far there are 37 mutations of MC2R gene had been found in FGD, one or more mutations exsist in a FGD decrease the activation of MC2R.更多还原