Lysyl oxidase homolog 3 is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products ...
that in humans is encoded by the ''LOXL3''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding an extracellular copper-dependent amine oxidase that catalyses the first step in the formation of crosslinks in collagens and elastin. A highly conserved amino acid sequence at the C-terminus end appears to be sufficient for amine oxidase activity, suggesting that each family member may retain this function. The
N-terminus is poorly conserved and may impart additional roles in developmental regulation, senescence, tumor suppression, cell growth control, and chemotaxis to each member of the family. Alternatively spliced transcript variants of this gene have been reported but their full-length nature has not been determined.
Clinical significance
An autosomal recessive mutation (
missense variant) in the LOXL3 gene is one of the causes of
Stickler syndrome, a disease where
collagen is not crosslinked properly. Common features are high
myopia and
cleft palate
A cleft lip contains an opening in the upper lip that may extend into the nose. The opening may be on one side, both sides, or in the middle. A cleft palate occurs when the palate (the roof of the mouth) contains an opening into the nose. The ...
due to
arthropathy
An arthropathy is a disease of a joint. Types
Arthritis is a form of arthropathy that involves inflammation of one or more joints, while the term arthropathy may be used regardless of whether there is inflammation or not.
Joint diseases can be ...
(
joint
A joint or articulation (or articular surface) is the connection made between bones, ossicles, or other hard structures in the body which link an animal's skeletal system into a functional whole.Saladin, Ken. Anatomy & Physiology. 7th ed. McGraw- ...
pathology) and
vitreoretinopathy (pathology of the
eye).
See also
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LOXL1
Lysyl oxidase homolog 1, also known as LOXL1, is an enzyme which in humans is encoded by the ''LOXL1'' gene.
Function
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesi ...
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LOXL2
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LOXL4
Lysyl oxidase homolog 4 is an enzyme that in humans is encoded by the ''LOXL4'' gene.
This gene encodes a member of the lysyl oxidase gene family. The prototypic member of the family is essential to the biogenesis of connective tissue, encoding a ...
References
Further reading
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Lysyl oxidases
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