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[7][8][9]。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[10][11][12]

黑素皮质素受体4
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
相關疾病
兒童肥胖体重[1]
為以下藥物的標靶
美拉諾坦 I美拉諾坦 IITHIQsetmelanotide[2]
基因位置(人类
18號染色體
染色体18號染色體[3]
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[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
物種人類小鼠
Entrez

4160

17202

Ensembl

ENSG00000166603

ENSMUSG00000047259

UniProt

P32245

P56450

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]
維基數據

據2008年的報導,MC4R突變與人類遺傳性肥胖有關[13]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。

參考文獻

  1. .
  2. .
  3. GRCh38: Ensembl release 89: ENSG00000166603 - Ensembl, May 2017
  4. GRCm38: Ensembl release 89: ENSMUSG00000047259 - Ensembl, May 2017
  5. . National Center for Biotechnology Information, U.S. National Library of Medicine.
  6. . National Center for Biotechnology Information, U.S. National Library of Medicine.
  7. Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG, Cone RD. . 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. . Cytogenetics and Cell Genetics. November 1998, 82 (1–2): 97–8. PMID 9763669. doi:10.1159/000015074.
  9. . (原始内容存档于2010-03-07).
  10. Fan W, Boston BA, Kesterson RA, Hruby VJ, Cone RD. . 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. . 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. . Proceedings of the National Academy of Sciences of the United States of America. August 2002, 99 (17): 11381–6. Bibcode:2002PNAS...9911381V. PMC 123265可免费查阅. 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. . Nature Genetics. June 2008, 40 (6): 768–775. ISSN 1546-1718. PMC 2669167可免费查阅. PMID 18454148. doi:10.1038/ng.140.
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