黑素皮质素受体4

MC4受體,即MC4R,是在人體中由MC4R基因編碼的黑素皮质素受體英语Melanocortin receptor[6][7][8]。它編碼MC4蛋白。在小鼠中,已發現MC4受體參與進食行為,代謝,性行為和男性勃起功能的調節[9][10][11]

黑素皮质素受体4
Protein MC4R PDB 2IQP.png
已知的結構
PDB直系同源搜索: PDBe RCSB
識別號
别名MC4R;, Melanocortin 4 receptor, BMIQ20
外部IDOMIM155541 MGI99457 HomoloGene4320 GeneCardsMC4R
為以下藥物的標靶
美拉諾坦 I、​美拉諾坦 II、​THIQ[1]
基因位置(人类
18號染色體
染色体18號染色體[2]
18號染色體
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[2]
终止60,372,775 bp[2]
RNA表达模式
PBB GE MC4R 221467 at fs.png
查阅更多表达数据
直系同源
物種人類小鼠
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: 66.86 – 66.86 Mb
PubMed​查找[4][5]
維基數據
檢視/編輯人類檢視/編輯小鼠

據2008年的報導,MC4R突變與人類遺傳性肥胖有關[12]在體重指數大於30的人群中,該病的患病率為1.0–2.5%,是最容易導致肥胖的最常見遺傳缺陷。[來源請求]

參考文獻编辑

  1. ^ 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. 
  2. ^ 2.0 2.1 2.2 GRCh38: Ensembl release 89: ENSG00000166603 - Ensembl, May 2017
  3. ^ 3.0 3.1 3.2 GRCm38: Ensembl release 89: ENSMUSG00000047259 - Ensembl, May 2017
  4. ^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  5. ^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine. 
  6. ^ 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. PMC   请检查|pmc=值 (帮助). PMID 7949735. doi:10.1007/BF00369320. 
  7. ^ 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. PMC   请检查|pmc=值 (帮助). PMID 9763669. doi:10.1159/000015074. 
  8. ^ Entrez Gene: MC4R melanocortin 4 receptor. 
  9. ^ 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. 
  10. ^ 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. 
  11. ^ Van der Ploeg LH, Martin WJ, Howard AD, Nargund RP, Austin CP, Guan X, 等. 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. 
  12. ^ 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.