matrilin 3
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El MATN3 gene provides the instructions for making a protein called matrilin-3. This protein is found in the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, matrilin-3 is located in the extracellular matrix surrounding the cells that make up ligaments and tendons, and near cartilage-forming cells (chondrocytes). Chondrocytes play an important role in bone formation (osteogenesis). In the bones of the spine, hips, and limbs, the process of osteogenesis starts with the formation of cartilage, which is then converted into bone.
Normal function
El MATN3 gene provides the instructions for making a protein called matrilin-3. This protein is found in the extracellular matrix, which is an intricate lattice of proteins and other molecules that forms in the spaces between cells. Specifically, matrilin-3 is located in the extracellular matrix surrounding the cells that make up ligaments and tendons, and near cartilage-forming cells (chondrocytes). Chondrocytes play an important role in bone formation (osteogenesis). In the bones of the spine, hips, and limbs, the process of osteogenesis starts with the formation of cartilage, which is then converted into bone.
The normal function of the MATN3 gene is not fully understood; however, research suggests that matrilin-3 may play a role in the organisation of collagen and other cartilage proteins. Collagens are proteins that provide strength and support to many body tissues, including cartilage. Matrilin-3 has been shown to interact with the COMP protein, type II collagen, and type IX collagen, which are all important in cartilage and bone formation.
Conditions referring to this gene or chromosome
Otros nombres
EDM5
MATN3_HUMAN
Related patient information and medicines
Patient information leaflet
Paperas
Paperas es an infection caused by a virus. It mainly affects the salivary glands, which are around the face. Sometimes other parts of the body are affected. Mumps normally affects children, but can occur at any age. Mumps is now uncommon in the UK as children are routinely immunised against mumps. What is mumps. Mumps is a contagious viral infection.
Patient information leaflet
Parche anticonceptivo
The contraceptive patch is stuck on to the skin so that the two hormones are continuously delivered to the body, giving contraceptive cover. You can read about the COC pill in more depth. There is one combined contraceptive patch available in the UK, llamado Evra®. The contraceptive patch is available from your GP, family planning clinic or sexual.
Patient information leaflet
Hemorroides
These blood vessels can en. When this happens, one or more soft lumps (piles) can form inside or around the anus. What do piles look like. Most piles form inside the anus or rectum (known as internal piles) and don’t protrude, so you may not be able to see them. Larger internal piles may hang down out of your bottom, where they look like a.
Patient information leaflet
Métodos anticonceptivos
Anticoncepción es the process of taking steps to ensure you do not become pregnant when you have sex. There are many options for doing this. They all have pros and cons. Different methods will be right for different couples, or right for you at different times in your life. This leaflet gives a brief summary of the methods of contraception. A more.
Patient information leaflet
enfermedad de Lyme
enfermedad de Lyme es an infection caused by being bitten by un infected tick. The first and most common symptom is a rash that spreads out from the site of the tick bite. Left untreated, the germs (bacteria) can spread to other areas of the body. In some cases this can cause serious symptoms - often months after the initial tick bite. A course of.
Patient information leaflet
¿Puedo tomar Atorvastatina y Cardioace juntos?
Cardioace contains several ingredients, including Garlic extract and Omega-3 fatty acids. ...tion Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take togetherAlways consult your GP, pharmacist, or another qualified healthcare professional before making decisions about your medications..
Lecturas adicionales y referencias
- matrilin 3; MedlinePlus, National Library of Medicine.
- Briggs MD, Chapman KL. Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations. Hum Mutat. 2002 May;19(5):465-78. doi: 10.1002/humu.10066.
- Briggs MD, Wright MJ, Mortier GR. Multiple Epiphyseal Dysplasia, Autosomal Dominant. 2003 Jan 8 [updated 2024 Jul 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/NBK1123/
- Fresquet M, Jackson GC, Loughlin J, Briggs MD. Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3. Hum Mutat. 2008 Feb;29(2):330. doi: 10.1002/humu.9518.
- Fresquet M, Jowitt TA, Ylostalo J, Coffey P, Meadows RS, Ala-Kokko L, Thornton DJ, Briggs MD. Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases. J Biol Chem. 2007 Nov 30;282(48):34634-43. doi: 10.1074/jbc.M705301200. Epub 2007 Sep 18.
- Nicolae C, Ko YP, Miosge N, Niehoff A, Studer D, Enggist L, Hunziker EB, Paulsson M, Wagener R, Aszodi A. Abnormal collagen fibrils in cartilage of matrilin-1/matrilin-3-deficient mice. J Biol Chem. 2007 Jul 27;282(30):22163-75. doi: 10.1074/jbc.M610994200. Epub 2007 May 14.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.