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EFEMP1
EFEMP1A gene that encodes a protein with the long, complex name of EGF-containing fibulin-like extracellular matrix protein 1. EFEMP1 is now also known as FBLN3. RELATED TERMS-------------------------------------- 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. 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. Extracellular Outside the cells. EFEMP1 A gene that encodes a protein with the long, complex name of EGF-containing fibulin-like extracellular matrix protein 1. EFEMP1 is now also known as FBLN3. FBLN3 The gene encoding the protein known as fibulin 3. SIMILAR TERMS-------------------------------------- PREVIOUS AND NEXT TERMS-------------------------------------- Edentulous Being without teeth. Complete loss of all natural teeth can substantially reduce quality of life, self-image, and daily functioning. EDMD Muscular dystrophy, Emery-Dreifuss. Excessive daytime sleepiness (EDS) A neurological disorder marked by a sudden recurrent uncontrollable compulsion to sleep. Also known as narcolepsy. It is often associated with cataplexy (a sudden loss of muscle tone and paralysis of voluntary muscles associated with a strong emotion), sleep paralysis (immobility of the body that occurs in the transition from sleep to wakefulness), what are called hypnagogic hallucinations (pre-sleep dreams) and automatic behaviors (such as doing something "automatically" and not remembering afterwards how one did it). Edwards syndrome Trisomy 18 syndrome. Children with the syndrome have an extra chromosome 18 with a characteristic pattern of multiple malformations and mental retardation. Features include low birth weight, small head (microcephaly), small jaw (micrognathia), malformations of the heart and kidneys, clenched fists with abnormal finger positioning, and malformed feet. The mental retardation is profound with an IQ too low to measure. Nineteen out of 20 of these children die before their first birthday. EEE Eastern equine encephalitis. EFEMP1 Effect, founder A population group with an unusual frequency of a gene due to there having been only a small number of original members ("founders") one or more of whom had that gene. Effective dose The dose of a drug that will achieve the desired effect. Effects, fetal rubella The constellation of abnormalities, also called the rubella syndrome, caused by infection with the rubella (German measles) A virus before birth. The syndrome is characterized by multiple congenital malformations (birth defects) and mental retardation. Efferent nerve A nerve that carries impulses away from the central nervous system (CNS). An efferent nerve is the opposite of an afferent nerves that carries impulses toward the CNS. Efferent vessel A vessel carrying blood away from the heart. An artery or arteriole. We thank you for using the Medical Glossary to search for EFEMP1. If you have a better definition for EFEMP1 than the one presented here, please let us know by making use of the suggest a term option. This definition of EFEMP1 may be disputed by other professionals. Our attempt is to provide easy definitions on EFEMP1 and any other medical topic for the public at large.
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