Microfibrillar-associated protein 2 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 ''MFAP2''
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 ...
.
Microfibrillar-associated protein 2 is a major
antigen
In immunology, an antigen (Ag) is a molecule, moiety, foreign particulate matter, or an allergen, such as pollen, that can bind to a specific antibody or T-cell receptor. The presence of antigens in the body may trigger an immune response.
...
of
elastin
Elastin is a protein encoded by the ''ELN'' gene in humans and several other animals. Elastin is a key component in the extracellular matrix of gnathostomes (jawed vertebrates). It is highly Elasticity (physics), elastic and present in connective ...
-associated
microfibril A microfibril is a very fine fibril, or fiber-like strand, consisting of glycoproteins and cellulose. It is usually, but not always, used as a general term in describing the structure of protein fiber, e.g. hair and sperm tail. Its most frequently o ...
s and a candidate for involvement in the
etiology
Etiology (; alternatively spelled aetiology or ætiology) is the study of causation or origination. The word is derived from the Greek word ''()'', meaning "giving a reason for" (). More completely, etiology is the study of the causes, origins ...
of inherited
connective tissue disease
Connective tissue diseases (also termed connective tissue disorders, or collagen vascular diseases), are medical conditions that affect connective tissue.
Connective tissues protect, support, and provide structure for the body's other tissues a ...
s. This gene encodes two
transcript
Transcript may refer to:
* Transcript (biology), a molecule of RNA transcribed from DNA
* Transcript (education), a copy of a student's permanent academic record
* Transcript (law), a written record of spoken language in court proceedings
* Transc ...
s with two alternatively spliced 5' untranslated
exon
An exon is any part of a gene that will form a part of the final mature RNA produced by that gene after introns have been removed by RNA splicing. The term ''exon'' refers to both the DNA sequence within a gene and to the corresponding sequence ...
s. These two transcripts contain the same eight coding exons, and therefore, encode the same protein.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
{{gene-1-stub