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. 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, Jul 2008].
产品应用
应用
已检合格种属
预测种属
推荐稀释比例
WB
Rat
Human, Mouse
1:500-2000
IHC-P
Human
Mouse, Rat
1:50-200
IHC-F
Human
Mouse, Rat
1:50-200
IF
Human
Mouse, Rat
1:50-200
交叉反应
交叉反应: Human, Rat (predicted: Mouse)
相关产品
暂无相关产品
靶标
基因名
POMC
蛋白名
Pro-opiomelanocortin
亚基
Belongs to the POMC family.
亚细胞定位
Secreted.
组织特异性
ACTH and MSH are produced by the pituitary gland.
翻译后修饰
Specific enzymatic cleavages at paired basic residues yield the different active peptides.
O-glycosylated; reducing sugar is probably N-acetylgalactosamine.
疾病
Defects in POMC may be associated with susceptibility to obesity (OBESITY) [MIM:601665]. It is a condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat.
Defects in POMC are the cause of pro-opiomelanocortinin deficiency (POMCD) [MIM:609734]. Affected individuals present early-onset obesity, adrenal insufficiency and red hair.
相似性
Belongs to the POMC family.
功能
ACTH stimulates the adrenal glands to release cortisol.
MSH (melanocyte-stimulating hormone) increases the pigmentation of skin by increasing melanin production in melanocytes.
Beta-endorphin and Met-enkephalin are endogenous opiates.