guanylate cyclase 2D, retinal
Última atualização 6 Oct 2022
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
The GUCY2D gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the retina, which is the specialized tissue at the back of the eye that detects light and colour. Within the retina, the GUCY2D protein is located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptor cells: rods and cones. Rods are needed for vision in low light, while cones are needed for vision in bright light, including colour vision.
Normal function
The GUCY2D gene provides instructions for making a protein that plays an essential role in normal vision. This protein is found in the retina, which is the specialized tissue at the back of the eye that detects light and colour. Within the retina, the GUCY2D protein is located in light-detecting cells called photoreceptors. The retina contains two types of photoreceptor cells: rods and cones. Rods are needed for vision in low light, while cones are needed for vision in bright light, including colour vision.
The GUCY2D protein is involved in a process called phototransduction. When light enters the eye, it stimulates specialized pigments called opsins that "hold" a vitamin A molecule in photoreceptor cells. This stimulation triggers a series of chemical reactions that close the open channel in the cell membranes of rod and cone cells. This closure produces an electrical signal, which is then interpreted by the brain as vision.
Once photoreceptors have been stimulated by light, they must return to their resting (or "dark") state before they can be stimulated again. The GUCY2D protein is involved in a chemical reaction that re-opens the cell membrane channels that helps return photoreceptors to their dark state after light exposure.
Conditions referring to this gene or chromosome
Other names
CORD6
CYGD
guanylate cyclase 2D, membrane (retina-specific)
GUC1A4
GUC2D
GUC2D_HUMAN
LCA1
RCD2
retGC
RETGC-1
RETGC1
retinal guanylyl cyclase 1
rod outer segment membrane guanylate cyclase
ROS-GC
ROS-GC1
ROSGC
Related patient information and medicines
Patient information leaflet
Problemas oculares
This leaflet contains a list of conditions which affect the eye, grouped together by the part of the eye which is affected or involved. Retinal detachment (RD) The retina is made up of two layers: an inner layer of light-sensitive 'seeing cells' (called rods and cones) and an outer layer of pigmented cells which nourish and support them..
Patient information leaflet
Vasodilatadores periféricos
Vasodilatadores periféricos são para resfriado that are used to treat conditions that affect blood vessels in outer (peripheral) parts of the body such as the arms and legs. For example, they are used to treat peripheral arterial disease and Raynaud's phenomenon. They ease the symptoms of these conditions by dilating the blood vessels, preventing them from.
Patient information leaflet
Diabetes tipo 2
Type 2 diabetes can occur at any age, including during childhood, but it occurs mainly in people aged over 40. The first-line treatment is diet, weight control and physical activity. ... This means that you need more insulin than you normally make to keep the blood sugar (glucose) level down; or A combination of the above two reasons. You can.
Patient information leaflet
Miopia
Eyesight problems, such as myopia, are also known as refractive errors. S hort- sightedness leads to blurred vision w... Myopia (also known as short-sightedness or near-sightedness) is a refractive error that occurs when light coming from distant objects is 'overfocused', so that the point of focus is in front of the retina. Refractive surgery.
Patient information leaflet
Hipermetropia
The medical name for long-sightedness is hypermetropia, sometimes called hyperopia. Eyesight problems, such as hypermetropia, are also known as refractive errors. Long-sightedness leads to problems with near vision (seeing things that are c... What is hypermetropia. Hypermetropia (long-sightedness) is a refractive error and occurs when light from.
Patient information leaflet
Problemas visuais
Most people are concerned when they develop problems af... This leaflet describes most eye conditions which can affect vision, either temporarily or permanently. Visual loss can be partial (meaning the vision is impaired or hazy or that the visual field is reduced) or complete (meaning all or part of the vision in one or both eyes is too poor for.
Leitura adicional e referências
- guanylate cyclase 2D, retinal; MedlinePlus, National Library of Medicine.
- Boulanger-Scemama E, El Shamieh S, Demontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Said S, Sahel JA, Zeitz C, Audo I. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3.
- Boye SE. Leber congenital amaurosis caused by mutations in GUCY2D. Cold Spring Harb Perspect Med. 2014 Sep 25;5(1):a017350. doi: 10.1101/cshperspect.a017350.
- Hanein S, Perrault I, Olsen P, Lopponen T, Hietala M, Gerber S, Jeanpierre M, Barbet F, Ducroq D, Hakiki S, Munnich A, Rozet JM, Kaplan J. Evidence of a founder effect for the RETGC1 (GUCY2D) 2943DelG mutation in Leber congenital amaurosis pedigrees of Finnish origin. Hum Mutat. 2002 Oct;20(4):322-3. doi: 10.1002/humu.9067.
- Ito S, Nakamura M, Ohnishi Y, Miyake Y. Autosomal dominant cone-rod dystrophy with R838H and R838C mutations in the GUCY2D gene in Japanese patients. Jpn J Ophthalmol. 2004 May-Jun;48(3):228-35. doi: 10.1007/s10384-003-0050-y.
- Kitiratschky VB, Wilke R, Renner AB, Kellner U, Vadala M, Birch DG, Wissinger B, Zrenner E, Kohl S. Mutation analysis identifies GUCY2D as the major gene responsible for autosomal dominant progressive cone degeneration. Invest Ophthalmol Vis Sci. 2008 Nov;49(11):5015-23. doi: 10.1167/iovs.08-1901. Epub 2008 May 16.
- Kumaran N, Pennesi ME, Yang P, Trzupek KM, Michaelides M. Nonsyndromic Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview. 2018 Oct 4 [updated 2025 Dec 4]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK531510/
- Payne AM, Morris AG, Downes SM, Johnson S, Bird AC, Moore AT, Bhattacharya SS, Hunt DM. Clustering and frequency of mutations in the retinal guanylate cyclase (GUCY2D) gene in patients with dominant cone-rod dystrophies. J Med Genet. 2001 Sep;38(9):611-4. doi: 10.1136/jmg.38.9.611. No abstract available.
- Rozet JM, Perrault I, Gerber S, Hanein S, Barbet F, Ducroq D, Souied E, Munnich A, Kaplan J. Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA). Invest Ophthalmol Vis Sci. 2001 May;42(6):1190-2.
- Stunkel ML, Brodie SE, Cideciyan AV, Pfeifer WL, Kennedy EL, Stone EM, Jacobson SG, Drack AV. Expanded Retinal Disease Spectrum Associated With Autosomal Recessive Mutations in GUCY2D. Am J Ophthalmol. 2018 Jun;190:58-68. doi: 10.1016/j.ajo.2018.03.021. Epub 2018 Mar 17.
- Ugur Iseri SA, Durlu YK, Tolun A. A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. Eur J Hum Genet. 2010 Oct;18(10):1121-6. doi: 10.1038/ejhg.2010.81. Epub 2010 Jun 2.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.