retinitis pigmentosa GTPase regulator
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ال RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein's function is not well understood, studies suggest that it plays an important role in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input, including hearing, smell, and vision.
Normal function
ال RPGR gene provides instructions for making a protein that is essential for normal vision. Although the protein's function is not well understood, studies suggest that it plays an important role in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of many types of cells. They are involved in cell movement and many different chemical signaling pathways. Cilia are also necessary for the perception of sensory input, including hearing, smell, and vision.
Several different versions (isoforms) of the RPGR protein are produced from the RPGR gene. One version contains a segment known as the ORF15 exon. This version of the RPGR protein is active (expressed) predominantly in the retina, which is the light-sensitive tissue at the back of the eye. Specifically, the ORF15-containing isoform is found in the retina's specialized light receptor cells (photoreceptors). Researchers suspect that this isoform may help maintain photoreceptors by regulating the function of cilia. Other isoforms of the RPGR protein are expressed in other parts of the body, where they are probably also involved in cilia function.
Conditions referring to this gene or chromosome
Other names
COD1
CORDX1
CRD
PCDX
retinitis pigmentosa 15
retinitis pigmentosa 3 GTPase regulator
RP15
RP3
RPGR_HUMAN
X-linked retinitis pigmentosa GTPase regulator
XLRP3
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Patient information leaflet
مشاكل العين
Macular degeneration The macula is the small area of the retina at the back of your eye and respon... Retinitis pigmentosa Retinitis pigmentosa is the term for several inherited diseases with a gradual deterioration of the light-sensitive cells of the retina. Retinal dystrophy Retinal dystrophies are a group of inherited disorders which result in.
Patient information leaflet
مشاكل بصرية
Chorioretinitis Chorioretinitis is infection or inflammation of the choroid and retina. The choroid is the pigmented, highly vascular layer of the globe of the eye, whose main function is to nourish the outer layers of the retina. Retinitis pigmentosa (RP) 'Retinitis pigmentosa' is the term for several inherited diseases which cause a gradual.
Patient information leaflet
متلازمة تشارلز بونيه
One patient described trying to fight off the images of wild animals by using an umbrella. Charles Bonnet syndrome causes The main cause of the symptoms of CBS is loss of vision. The loss of vision may be caused by retinitis pigmentosa, Stargardt's disease or any other accident or disease which can affect the eyesight. Researchers believe that.
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التهاب العنبية
التهاب العنبية is a general term describing inflammation of the part of the eye called the uveal tract. This consists of the iris, ciliary body and choroid - although uveitis can additionally involve other parts of the eye. What is uveitis. Uveitis is inflammation of the uveal tract. The choroid : the layer of tissue between your retina and your sclera,.
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Medical negligence
There are several different options for making complaints about care: Making an 'informal complaint' can be a good first step, as this often resolves the problem more quickly than the formal complaint process. (In Northern Ireland, pharmacists يكون regulated by the Pharmaceutical Society of Northern Ireland). The Health and Care Professions ....
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داء الخلايا البدينة واضطرابات الخلايا البدينة
A mast cell is a type of white blood cell. Altogether, they occur in about 1 in 150,000 people. The most common type - urticaria pigmentosa (see section on symptoms, below) - is seen in 1 person in every 1,000 who attends a skin (dermatology) clinic. What are the symptoms of mast cell disorders. Cutaneous mastocytosis When larger than normal.
قراءة إضافية ومراجع
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تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
8 مايو 2023 | أحدث إصدار
1 Oct 2010 | نُشر في الأصل
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