黑素皮质素受体4

MC4受体,即MC4R,是在人体中由MC4R基因编码的黑素皮质素受体[7][8][9]。它编码MC4蛋白。在小鼠中,已发现MC4受体参与进食行为,代谢,性行为和男性勃起功能的调节[10][11][12]

黑素皮质素受体4
已知的结构
PDB直系同源搜索: PDBe RCSB
识别号
别名MC4R;, Melanocortin 4 receptor, BMIQ20
外部IDOMIM155541 MGI99457 HomoloGene4320 GeneCardsMC4R
相关疾病
儿童肥胖、​体重[1]
为以下药物的标靶
美拉诺坦 I、​美拉诺坦 II、​THIQ、​setmelanotide[2]
基因位置(人类
18号染色体
染色体18号染色体[3]
18号染色体
黑素皮质素受体4的基因位置
黑素皮质素受体4的基因位置
基因座18q21.32起始60,371,062 bp[3]
终止60,372,775 bp[3]
RNA表达模式
查阅更多表达数据
直系同源
物种人类小鼠
Entrez
Ensembl
UniProt
mRNA​序列

NM_005912

NM_016977

蛋白序列

NP_005903

NP_058673

基因位置​(UCSC)Chr 18: 60.37 – 60.37 MbChr 18: 66.99 – 66.99 Mb
PubMed​查找[5][6]
维基数据
查看/编辑人类查看/编辑小鼠

据2008年的报导,MC4R突变与人类遗传性肥胖有关[13]在体重指数大于30的人群中,该病的患病率为1.0–2.5%,是最容易导致肥胖的最常见遗传缺陷。[来源请求]

参考文献

编辑
  1. ^ 與黑素皮质素受体4相關的疾病;在維基數據上查看/編輯參考. 
  2. ^ 對黑皮质素受体4起作用的藥物;在維基數據上查看/編輯參考. 
  3. ^ 3.0 3.1 3.2 GRCh38: Ensembl release 89: ENSG00000166603 - Ensembl, May 2017
  4. ^ 4.0 4.1 4.2 GRCm38: Ensembl release 89: ENSMUSG00000047259 - Ensembl, May 2017
  5. ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  6. ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  7. ^ Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG, Cone RD. Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human. Mammalian Genome. August 1994, 5 (8): 503–8. PMID 7949735. doi:10.1007/BF00369320. 
  8. ^ Sundaramurthy D, Campbell DA, Leek JP, Markham AF, Pieri LF. Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping. Cytogenetics and Cell Genetics. November 1998, 82 (1–2): 97–8. PMID 9763669. doi:10.1159/000015074. 
  9. ^ Entrez Gene: MC4R melanocortin 4 receptor. (原始内容存档于2010-03-07). 
  10. ^ Fan W, Boston BA, Kesterson RA, Hruby VJ, Cone RD. Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature. January 1997, 385 (6612): 165–8. Bibcode:1997Natur.385..165F. PMID 8990120. doi:10.1038/385165a0. 
  11. ^ Huszar D, Lynch CA, Fairchild-Huntress V, Dunmore JH, Fang Q, Berkemeier LR, Gu W, Kesterson RA, Boston BA, Cone RD, Smith FJ, Campfield LA, Burn P, Lee F. Targeted disruption of the melanocortin-4 receptor results in obesity in mice. Cell. January 1997, 88 (1): 131–41. PMID 9019399. doi:10.1016/S0092-8674(00)81865-6. 
  12. ^ Van der Ploeg LH, Martin WJ, Howard AD, Nargund RP, Austin CP, Guan X, et al. A role for the melanocortin 4 receptor in sexual function. Proceedings of the National Academy of Sciences of the United States of America. August 2002, 99 (17): 11381–6. Bibcode:2002PNAS...9911381V. PMC 123265 . PMID 12172010. doi:10.1073/pnas.172378699. 
  13. ^ Loos, Ruth J. F.; Lindgren, Cecilia M.; Li, Shengxu; Wheeler, Eleanor; Zhao, Jing Hua; Prokopenko, Inga; Inouye, Michael; Freathy, Rachel M.; Attwood, Antony P.; Beckmann, Jacques S.; Berndt, Sonja I. Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nature Genetics. June 2008, 40 (6): 768–775. ISSN 1546-1718. PMC 2669167 . PMID 18454148. doi:10.1038/ng.140.