SMOC2
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SPARC-related modular calcium-binding 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 ''SMOC2''
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 ...
.


Clinical relevance

This gene has been shown mutated in clinical cases of major dental developmental defects.
Brachycephalic dog The cephalic index or cranial index is a number obtained by taking the maximum width (biparietal diameter or BPD, side to side) of the head of an organism, multiplying it by 100 and then dividing it by their maximum length (occipitofrontal diame ...
s show a shortening of the
snout A snout is the protruding portion of an animal's face, consisting of its nose, mouth, and jaw. In many animals, the structure is called a muzzle, Rostrum (anatomy), rostrum, beak or proboscis. The wet furless surface around the nostrils of the n ...
along with a widening of the
hard palate The hard palate is a thin horizontal bony plate made up of two bones of the facial skeleton, located in the roof of the mouth. The bones are the palatine process of the maxilla and the horizontal plate of palatine bone. The hard palate spans ...
. This skull form is highly associated with disorders of breathing and of the eyes. Brachycephaly in dogs is correlated to a
retrotransposon Retrotransposons (also called Class I transposable elements) are mobile elements which move in the host genome by converting their transcribed RNA into DNA through reverse transcription. Thus, they differ from Class II transposable elements, or ...
induced missplicing the SMOC2 gene.


References


Further reading

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