POMC（阿黑皮素原）是一个重要的基因，编码一种前体蛋白，经过剪切后可产生多种具有生物活性的肽类激素，包括促肾上腺皮质激素（ACTH）、β-内啡肽和α-、β-、γ-黑色素细胞刺激素（MSH）。这些激素在调节能量代谢、应激反应、疼痛感知和皮肤色素沉着中起关键作用。POMC主要在垂体和下丘脑中表达，其产物通过激活黑皮质素受体（MCRs）发挥作用，尤其是MC1R（影响色素沉着）、MC3R和MC4R（调节食欲和能量平衡）。POMC基因突变可能导致多种疾病，如POMC缺乏症，表现为早发性肥胖、肾上腺功能不全和红发（由于缺乏α-MSH）。此外，POMC表达异常与代谢紊乱（如肥胖）和精神疾病（如抑郁症）相关。POMC过表达可能导致ACTH过量分泌，引发库欣综合征（表现为高血糖、高血压和向心性肥胖），而表达降低则可能导致肾上腺功能不全和食欲失调。POMC属于阿片-促黑素细胞皮质激素原（POMC）基因家族，该家族成员共同特点是编码多效前体蛋白，可剪切为多种神经内分泌肽，参与应激、代谢和行为的调控。

This gene encodes a polypeptide hormone precursor that undergoes extensive, tissue-specific, post-translational processing via cleavage by subtilisin-like enzymes known as prohormone convertases. There are eight potential cleavage sites within the polypeptide precursor and, depending on tissue type and the available convertases, processing may yield as many as ten biologically active peptides involved in diverse cellular functions. The encoded protein is synthesized mainly in corticotroph cells of the anterior pituitary where four cleavage sites are used; adrenocorticotrophin, essential for normal steroidogenesis and the maintenance of normal adrenal weight, and lipotropin beta are the major end products. In other tissues, including the hypothalamus, placenta, and epithelium, all cleavage sites may be used, giving rise to peptides with roles in pain and energy homeostasis, melanocyte stimulation, and immune modulation. These include several distinct melanotropins, lipotropins, and endorphins that are contained within the adrenocorticotrophin and beta-lipotropin peptides. The antimicrobial melanotropin alpha peptide exhibits antibacterial and antifungal activity. Mutations in this gene have been associated with early onset obesity, adrenal insufficiency, and red hair pigmentation. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Nov 2014]

此基因编码由被称为激素原转化酶枯草杆菌蛋白酶样酶通过裂解经历了广泛的，组织特异性，翻译后加工的多肽激素前体。有所述多肽的前体在八潜在切割位点，并根据组织类型和可用的转化酶，处理可产生多达十个参与多种细胞功能的生物活性肽。所编码的蛋白质主要是合成在垂体前叶，其中使用四个切割位点的corticotroph细胞; adrenocorticotrophin，对于正常类固醇和正常肾上腺重量的维护和促脂素必不可少的测试是主要的终端产品。在其它组织，包括下丘脑，胎盘和上皮细胞，可以使用所有的切割位点，从而产生了肽在疼痛和能量稳态，黑素细胞刺激，免疫调节作用。这包括包含在adrenocorticotrophin和β-促脂解素肽内的几个不同melanotropins，lipotropins，和内啡肽。抗微生物黑激素的α肽表现出抗菌和抗真菌活性。在这种基因突变与早发型肥胖，肾上腺机能不全，和红色毛色素相关联。编码相同蛋白质可变剪接转录物变体已有描述。 [由RefSeq的，2014年11月提供]

POMC基因在不同组织中的表达：    [UniProt]

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