melanocortin 1 receptor
अंतिम अद्यतन 18 Aug 2020
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
यह MC1R gene provides instructions for making a protein called the melanocortin 1 receptor. This receptor plays an important role in normal pigmentation. The receptor is primarily located on the surface of melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their colour. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Normal function
यह MC1R gene provides instructions for making a protein called the melanocortin 1 receptor. This receptor plays an important role in normal pigmentation. The receptor is primarily located on the surface of melanocytes, which are specialized cells that produce a pigment called melanin. Melanin is the substance that gives skin, hair, and eyes their colour. Melanin is also found in the light-sensitive tissue at the back of the eye (the retina), where it plays a role in normal vision.
Melanocytes make two forms of melanin, eumelanin and pheomelanin. The relative amounts of these two pigments help determine the colour of a person's hair and skin. People who produce mostly eumelanin tend to have brown or black hair and dark skin that tans easily. Eumelanin also protects skin from damage caused by ultraviolet (UV) radiation in sunlight. People who produce mostly pheomelanin tend to have red or blond hair, freckles, and light-colored skin that tans poorly. Because pheomelanin does not protect skin from UV radiation, people with more pheomelanin have an increased risk of skin damage caused by sun exposure.
The melanocortin 1 receptor controls which type of melanin is produced by melanocytes. When the receptor is activated, it triggers a series of chemical reactions inside melanocytes that stimulate these cells to make eumelanin. If the receptor is not activated or is blocked, melanocytes make pheomelanin instead of eumelanin.
Common variations (polymorphisms) in the MC1R gene are associated with normal differences in skin and hair colour. Certain genetic variations are most common in people with red hair, fair skin, freckles, and an increased sensitivity to sun exposure. These MC1R polymorphisms reduce the ability of the melanocortin 1 receptor to stimulate eumelanin production, causing melanocytes to make mostly pheomelanin. Although MC1R is a key gene in normal human pigmentation, researchers believe that the effects of other genes also contribute to a person's hair and skin coloring.
The melanocortin 1 receptor is also active in cells other than melanocytes, including cells involved in the body's immune and inflammatory responses. The receptor's function in these cells is unknown.
Conditions referring to this gene or chromosome
Other names
MC1-R
melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)
Melanocortin-1 receptor
melanocyte stimulating hormone receptor
melanotropin receptor
MSH-R
MSHR_HUMAN
Related patient information and medicines
Patient information leaflet
मास्टोसाइटोसिस और मास्ट सेल विकार
Mast cells हैं hard-working cells that have many functions, including helping to fight संक्रमण।. However, mast cell disorders can occur in which too many cells are produced or they become overactive. What are the types of mast cell disorder. Mastocytosis This is the term used when too many mast cells are produced. There are many different types.
Patient information leaflet
स्तन कैंसर
Ducts. These are channels which take milk from the lobules to the nipple. Fatty tissue and supporting connective tissue. Blood vessels, lymph channels and nerves (like all other areas of the body). Types of breast cancer Carcinoma in situ Some people are diagnosed when the cancerous cells are still totally within a duct or lobule. These are called.
Patient information leaflet
मधुमेह संबंधी गुर्दा रोग
They should only be used in type 1 diabetes under the direction of a diabetes specialist. Finerenone Finerenone is a new drug which blocks the action of certain hormones (mineralocorticoids) which may damage the kidneys. In the UK, it's currently recommended as an option for people with type 2 diabetes who have stage 3 or 4 kidney disease and.
Patient information leaflet
मायस्थेनिया ग्रेविस
Myasthenia gravis (MG) है a condition where muscles become easily tired and weak. It is due to a problem with how the nerves stimulate the muscles to tighten (contract). The muscles around the eyes are commonly affected first. This causes drooping eyelids and double vision. Treatment is usually effective. However, relapses are common and many.
Patient information leaflet
योनि शुष्कता
योनि शुष्कता is. It usually occurs after the menopause but can also occur when breastfeeding or due to some medical treatments. Ospemifene और prasterone These are newer medications used to treat GSM - they were recommended in the November 2024 update of the National Institute for Health and Care Excellence (NICE) guidance on the menopause..
Patient information leaflet
क्या मैं Diazepam और Tirzepatide को एक साथ ले सकता हूँ?
ऐसा क्यों होता है Tirzepatide is a GLP-1 and GIP receptor agonist that delays gastric emptying (the rate at which food and pills leave the stomach). This can delay the absorption (Tmax) of oral medications... Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute for professional medical.
अधिक पठन और संदर्भ
- melanocortin 1 receptor; MedlinePlus, National Library of Medicine.
- Duffy DL, Box NF, Chen W, Palmer JS, Montgomery GW, James MR, Hayward NK, Martin NG, Sturm RA. Interactive effects of MC1R and OCA2 on melanoma risk phenotypes. Hum Mol Genet. 2004 Feb 15;13(4):447-61. doi: 10.1093/hmg/ddh043. Epub 2004 Jan 6.
- Garcia-Borron JC, Sanchez-Laorden BL, Jimenez-Cervantes C. Melanocortin-1 receptor structure and functional regulation. Pigment Cell Res. 2005 Dec;18(6):393-410. doi: 10.1111/j.1600-0749.2005.00278.x.
- Ha T, Naysmith L, Waterston K, Oh C, Weller R, Rees JL. Defining the quantitative contribution of the melanocortin 1 receptor (MC1R) to variation in pigmentary phenotype. Ann N Y Acad Sci. 2003 Jun;994:339-47. doi: 10.1111/j.1749-6632.2003.tb03198.x.
- Healy E. Melanocortin 1 receptor variants, pigmentation, and skin cancer susceptibility. Photodermatol Photoimmunol Photomed. 2004 Dec;20(6):283-8. doi: 10.1111/j.1600-0781.2004.00132.x.
- Kanetsky PA, Rebbeck TR, Hummer AJ, Panossian S, Armstrong BK, Kricker A, Marrett LD, Millikan RC, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Busam K, From L, Mujumdar U, Wilcox H, Begg CB, Berwick M. Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res. 2006 Sep 15;66(18):9330-7. doi: 10.1158/0008-5472.CAN-06-1634.
- King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS. MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Am J Hum Genet. 2003 Sep;73(3):638-45. doi: 10.1086/377569. Epub 2003 Jul 22.
- Landi MT, Bauer J, Pfeiffer RM, Elder DE, Hulley B, Minghetti P, Calista D, Kanetsky PA, Pinkel D, Bastian BC. MC1R germline variants confer risk for BRAF-mutant melanoma. Science. 2006 Jul 28;313(5786):521-2. doi: 10.1126/science.1127515. Epub 2006 Jun 29.
- Mumm CD, Draznin M. Melanocortin-1 receptor: loss of function mutations and skin cancer. Dermatol Online J. 2006 Sep 8;12(5):13.
- Rees JL. Genetics of hair and skin color. Annu Rev Genet. 2003;37:67-90. doi: 10.1146/annurev.genet.37.110801.143233.
- Rees JL. The genetics of sun sensitivity in humans. Am J Hum Genet. 2004 Nov;75(5):739-51. doi: 10.1086/425285. Epub 2004 Sep 15.
- Rouzaud F, Kadekaro AL, Abdel-Malek ZA, Hearing VJ. MC1R and the response of melanocytes to ultraviolet radiation. Mutat Res. 2005 Apr 1;571(1-2):133-52. doi: 10.1016/j.mrfmmm.2004.09.014. Epub 2005 Jan 26.
- Sturm RA. Skin colour and skin cancer - MC1R, the genetic link. Melanoma Res. 2002 Oct;12(5):405-16. doi: 10.1097/00008390-200209000-00001.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.