References Product Information Presentation 0. Tomasek, J J, et al. A graphical view of the example protein P02452 Human Collagen alpha-1 chain as found in an InterPro entry. Mapping the Ligand-binding Sites and Disease-associated Mutations on the Most Abundant Protein in the Human, Type I Collagen. Disease descriptionAn autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. It binds a calcium ion which is essential for its function By similarity.
Interaction i This subsection of the 'Interaction' section provides information about the protein quaternary structure and interaction s with other proteins or protein complexes with the exception of physiological receptor-ligand interactions which are annotated in the 'Function' section. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. This subsection complements the information provided at the sequence level or describes modifications for which position-specific data is not yet available. Elegans Dog Fish Saccharomyces cerevisiae Recombinant Fragment Plants African elephant Rhesus Medaka Cow Squirrel Opossum Sheep Virus Horse Guinea Pig Gerbil Fungi Drosophila. Our experienced discovery and production teams will work with you to jointly evaluate proposals and identify partnering opportunities. These triple-stranded, rope-like procollagen molecules must be processed by enzymes outside the cell.
Oligohydramnios - a condition characterized by too little amniotic fluid. This finding has potential clinical implications for colon cancer progression and management of obesity. J Am Acad Orthop Surg. Patent ductus arteriosus - condition in which the connecting blood vessel between the pulmonary artery and the aorta in fetal circulation stays open in the newborn. This enzyme targets the connective tissue in muscle cells and other organs and can help facilitate the spread of gas gangrene; a deadly form of gangrene caused by the exotoxins of anaerobic bacteria. Thousands of laboratories across the world have published research that depended on the performance of biological reagents manufactured by Abgent to advance their research.
Amniocentesis - a test performed to determine chromosomal and genetic disorders and certain birth defects. Uterus also called the womb - a hollow, pear-shaped organ located in a woman's lower abdomen, between the bladder and the rectum, that sheds its lining each month during menstruation and in which a fertilized egg ovum becomes implanted and the fetus develops. Reciprocal translocations between chromosomes 17 and 22, where this gene and the gene for platelet-derived growth factor beta are located, are associated with a particular type of skin tumor called dermatofibrosarcoma protuberans, resulting from unregulated expression of the growth factor. It can be subdivided into three regions seen as non-overlapping signatures in the table, and in the domain architecture in Fig. Continue monitoring the voltage on your for fluctuations. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Involvement in disease i Disease descriptionCharacterized by an infantile episode of massive subperiosteal new bone formation that typically involves the diaphyses of the long bones, mandible, and clavicles.
Amniotic sac - a thin-walled sac that surrounds the fetus during pregnancy. The main features of classic Ehlers-Danlos syndrome are joint hypermobility and dislocation, and fragile, bruisable skin. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix. This snapshot of UniProt forms the basis of the overview that you see here. Vernix caseosa also called vernix - a white substance that covers the skin of the fetus while inside the uterus and helps to protect the fetus. We supply quality antibodies and related products drug discovery and academic laboratories worldwide. Collagenase versus placebo in the treatment of Peyronie's disease: a double-blind study.
This subsection of the Sequence section indicates if the canonical sequence displayed by default in the entry is in its mature form or if it represents the precursor. This results in abnormal fibrillogenesis. Archives of Dermatology, 135 5 :569-573. Binary interactions i With Entry Exp. Quality is embedded in the production process to assure the best antibody for you. That is the reason I am asking if there is a.
Hemoglobin - a type of protein in the red blood cells that carries oxygen to the tissues of the body. The altered protein interacts abnormally with other collagen-building proteins, disrupting the structure of type I collagen fibrils and trapping collagen in the cell. It is represented by two signatures: and 2. It is possible that there could be a fuel odor present in some instances. Identifying proteins connected to this pathway is critical to understanding the role of autophagy in physiological as well as pathological processes such as development, differentiation, neurodegenerative diseases, stress, infection, and cancer.
The table below shows the mapping between Pfam domains, this UniProt entry and a corresponding three dimensional structure. Abgent develops 1000+ new products per year. Fibrillar collagen, C-terminal: The exact function of this fibrillar collagen domain is unknown. Uterine wall - the wall of the uterus. Table of Collagens Table 1. Sequence processing i: The displayed sequence is further processed into a mature form. Proceedings of the National Acadamy of Sciences of the United States of America, 72 4 :1314—1316.
It is the main component of reticular fibres in bone, cartilage, tendon, bone marrow stroma and other connective tissue. Researchers believe that these changes in collagen cause the signs and symptoms of the disorder. Collagenous function includes rigidity and elasticity. Computationally mapped potential isoform sequences iThere is 1 potential isoform mapped to this entry. The connector may also be damaged inside.