FBLN5
Encyclopedia
Fibulin-5 is a protein
that in humans is encoded by the FBLN5 gene
.
, as well as being involved in Charcot-Marie-Tooth neuropathies.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the FBLN5 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Clinical relevance
FBLN5 mutations have been described in patients with age-related macular degenerationMacular degeneration
Age-related macular degeneration is a medical condition which usually affects older adults and results in a loss of vision in the center of the visual field because of damage to the retina. It occurs in “dry” and “wet” forms. It is a major cause of blindness and visual impairment in older adults...
, as well as being involved in Charcot-Marie-Tooth neuropathies.