Collagen alpha-1(XII) chain is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''COL12A1''
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 ba ...
.
This gene encodes the alpha chain of type XII collagen, a member of the
FACIT
Facit (''Facit AB'') was an industrial corporation and manufacturer of office products including furniture. It was based in Åtvidaberg, Sweden, and founded in 1922 as ''AB Åtvidabergs Industrier''. Facit AB, a manufacturer of mechanical calcu ...
(fibril-associated collagens with interrupted triple helices)
collagen
Collagen () is the main structural protein in the extracellular matrix found in the body's various connective tissues. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole ...
family. Type XII collagen is a
homotrimer
thumbnail, 400px, Trimeric form of a TNF-α mutant
A homotrimer is a protein which is composed of three identical units of polypeptide.
Examples
* Hemagglutinin (influenza)
* Spike protein (coronavirus)
See also
* Protein trimer
In biochemi ...
found in association with type I collagen, an association that is thought to modify the interactions between collagen I
fibrils
Fibrils (from the Latin ''fibra'') are structural biological materials found in nearly all living organisms. Not to be confused with fibers or filaments, fibrils tend to have diameters ranging from 10-100 nanometers (whereas fibers are micro ...
and the surrounding matrix.
Alternatively spliced transcript variants encoding different
isoforms
A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences. While many perform the same or similar biological roles, some isof ...
have been identified.
Clinical significance
*
Ehlers-Danlos syndrome Myopathic type is associated with mutations in the ''COL12A1''
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 ba ...
References
Further reading
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Collagens
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