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Fibulin 5
Fibulin 5 A protein that belongs to a family of extracellular proteins expressed in the basement membranes of blood vessels. Fibulin 5 may be essential for the polymerization of elastin. Missense mutations in FBLN5, the gene that encodes fibulin 5, appear responsible for 1-2% of cases of age-related macular degeneration (AMD). FBLN5 is located on chromosome 14 in band 14q32.1.
RELATED TERMS--------------------------------------
Protein
Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique genetically defined amino acid sequence which determines its specific shape and function. Their roles include enzymatic catalysis, transport and storage, coordinated motion, nerve impulse generation and many others.
Family
1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Extracellular
Outside the cells.
Membranes
Also know as the bag of waters, this thin sac contains the amniotic fluid and the fetus. The membranes will either rupture spontaneously during labor or be ruptured to speed up labor.
Blood
The life-maintaining fluid which is made up of plasma, red blood cells (erythrocytes), white blood cells (leukocytes), and platelets; blood circulates through the body's heart, arteries, veins, and capillaries; it carries away waste matter and carbon dioxide, and brings nourishment, electrolytes, hormones, vitamins, antibodies, heat, and oxygen to the tissues.
Essential
1. Something that cannot be done without. 2. Required in the diet, because the body cannot make it. As in an essential amino acid or an essential fatty acid. 3. Idiopathic. As in essential hypertension.
Elastin
A protein that coil and recoils like a spring within the elastic fibers of connective tissue and accounts for the elasticity of structures such the skin, blood vessels, heart, lungs, intestines, tendons, and ligaments. Elastin functions in connective tissue together with collagen. Whereas elastin provides elasticity, collagen provides rigidity to connective tissue. Elastin is normally no longer made after puberty and aging begins. Also called elasticin.
FBLN5
The gene encoding the protein known as fibulin 5.
Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.
Chromosome
A structural unit within a eukaryotic nucleus that carries genes. A chromosome consists of a long, continuous strand of DNA and associated proteins.
SIMILAR TERMS--------------------------------------
Fibula
Smaller of the two bones in the lower leg; runs from the knee to the ankle along the outside of the lower leg.
Fibulin 3
A protein that belongs to a family of extracellular proteins expressed in the basement membranes of blood vessels. The gene that encodes fibulin 3 is FBLN3 (or EFEMP1). FBLN3 is located on chromosome 2 in band 2p16. A single mutation in FBLN3 is responsible for an autosomal dominant form of macular degeneration.
PREVIOUS AND NEXT TERMS--------------------------------------
Fibrosis, cystic
One of the most common grave genetic (inherited) diseases, CF affects the exocrine glands and is characterized by the production of abnormal secretions, leading to mucous build-up.
Fibrosis, radiation
Scarring of the lungs from radiation. Radiation fibrosis is a sequel of radiation pneumonitis (inflammation of the lungs due to radiation), as from radiation therapy. Radiation pneumonitis typically occurs after radiation treatments for cancer within the chest or breast and usually manifests itself 2 weeks to 6 months after completion of radiation therapy. Symptoms include shortness of breath upon activity, cough and fever. Radiation pneumonitis frequently is discovered as an incidental finding on chest x-ray in patients who have no symptoms.
Fibrous dysplasia, monostotic
Excessive growth of hard fibrous tissue that replaces normal bone tissue in a single bone. Symptoms may include pain and fracture of the bone. Most cases are diagnosed in adolescence and young adulthood and remain unchanged throughout life. The prognosis (outlook) is usually very good.
Fibrous dysplasia, polyostotic
A genetic disorder of bones, skin pigmentation and hormonal problems with premature sexual development. Also called McCune-Albright syndrome or the Albright syndrome. In the syndrome, there is bone disease with fractures and deformity of the legs, arms and skull; pigment patches of the skin; and endocrine (hormonal) disease with early puberty (early menstrual bleeding, development of breasts and pubic hair) and an increased rate of growth. Polyostotic fibrous dysplasia is usually caused by mosaicism for a mutation in a gene called GNAS1 (Guanine Nucleotide binding protein, Alpha Stimulating activity polypeptide 1).
Fibulin 3
A protein that belongs to a family of extracellular proteins expressed in the basement membranes of blood vessels. The gene that encodes fibulin 3 is FBLN3 (or EFEMP1). FBLN3 is located on chromosome 2 in band 2p16. A single mutation in FBLN3 is responsible for an autosomal dominant form of macular degeneration.
Fibulin 5
Field, visual
The entire area that can be seen when the eye is directed forward, including that which is seen with peripheral vision.
Fifth cranial nerve
The fifth cranial nerve is the trigeminal nerve. The trigeminal nerve is quite complex. It functions both as the chief nerve of sensation for the face and the motor nerve controlling the muscles of mastication (chewing). Problems with the sensory part of the trigeminal nerve result in pain or loss of sensation in the face. Problems with the motor root of the trigeminal nerve result in deviation of the jaw toward the affected side and trouble chewing. The cranial nerves, the trigeminal nerve included, emerge from or enter the skull (the cranium), as opposed to the spinal nerves which emerge from the vertebral column. There are twelve cranial nerves.
Filial
1. In genetics, the first generation that results from the crossing of two parental lines, as the filial generation. 2. In general, pertaining to the relationship of children, both sons and daughters, to their parents.
Filler
An inactive substance used to make a product bigger or easier to handle. For example, fillers are often used to make pills or capsules because the amount of active drug is too small to be handled conveniently.
Film
Slang shortening of X-ray film, an X-ray, a radiograph.
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