Collagen alpha-2(I) chain is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''COL1A2''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
This gene encodes one of the chains for
type I collagen
Type I collagen is the most abundant collagen of the human body, consisting of around 90% of the body's total collagen in vertebrates. Due to this, it is also the most abundant protein type found in all vertebrates. Type I forms large, eosinop ...
, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with
osteogenesis imperfecta
Osteogenesis imperfecta (; OI), colloquially known as brittle bone disease, is a group of genetic disorders that all result in bones that bone fracture, break easily. The range of symptoms—on the skeleton as well as on the body's other Or ...
, Cardiac-valvular and Arthrochlasia type
Ehlers-Danlos syndrome, idiopathic
osteoporosis
Osteoporosis is a systemic skeletal disorder characterized by low bone mass, micro-architectural deterioration of bone tissue leading to more porous bone, and consequent increase in Bone fracture, fracture risk.
It is the most common reason f ...
, and atypical
Marfan syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically ha ...
. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for
alpha-1 type I collagen, since alpha-2 is less abundant. Multiple messages for this gene result from
multiple polyadenylation signals, a feature shared by most of the other collagen genes.
See also
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Type-I collagen
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Collagen
Collagen () is the main structural protein in the extracellular matrix of the connective tissues of many animals. It is the most abundant protein in mammals, making up 25% to 35% of protein content. Amino acids are bound together to form a trip ...
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Osteogenesis Imperfecta
Collagens
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