CNBP
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Cellular nucleic acid-binding protein 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 ''CNBP''
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 ...
.


Function

The ZNF9 protein contains 7 zinc finger domains and is believed to function as an RNA-binding protein. A CCTG expansion in intron 1 of the ZNF9 gene results in
myotonic dystrophy Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often myotonia, unable to relax after contraction. Other manifestations may include catarac ...
type 2 (MIM 602668). upplied by OMIMref name="entrez"/>


References


Further reading

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External links


GeneReviews/NCBI/NIH/UW entry on Myotonic Dystrophy Type 2
* * Transcription factors {{gene-3-stub