The ''DGCR2''
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 ...
encodes the
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 ...
integral membrane protein DGCR2/IDD in humans.
Deletions of the 22q11.2 have been associated with a wide range of developmental defects (notably
DiGeorge syndrome
DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent ...
,
velocardiofacial syndrome,
conotruncal anomaly face syndrome and isolated conotruncal cardiac defects) classified under the acronym
CATCH 22. The ''DGCR2'' gene encodes a novel putative adhesion receptor protein, which could play a role in
neural crest
The neural crest is a ridge-like structure that is formed transiently between the epidermal ectoderm and neural plate during vertebrate development. Neural crest cells originate from this structure through the epithelial-mesenchymal transition, ...
cells migration, a process which has been proposed to be altered in DiGeorge syndrome.
DGCR2 is thought to interact with the
Reelin
Reelin, encoded by the ''RELN'' gene, is a large secreted extracellular matrix glycoprotein that helps regulate processes of neuronal migration and positioning in the developing brain by controlling cell–cell interactions. Besides this importa ...
complex to regulate corticogenesis.
References
Further reading
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External links
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