PF07324

DiGeorge syndrome critical region 6 (DGCR6) protein

Pfam entry
Member databasePfam
Pfam typefamily
Short nameDGCR6
Author Vella Briffa B;0000-0003-4380-1783
Sequence Ontology0100021

Description

This family contains DiGeorge syndrome critical region 6 (DGCR6) proteins (approximately 200 residues long) of a number of vertebrates. DGCR6 is a candidate for involvement in the DiGeorge syndrome pathology by playing a role in neural crest cell migration into the third and fourth pharyngeal pouches, the structures from which derive the organs affected in DiGeorge syndrome
[1]
. Also found in this family is the Drosophila melanogaster gonadal protein gdl.

References

1.Isolation of a novel gene from the DiGeorge syndrome critical region with homology to Drosophila gdl and to human LAMC1 genes. Demczuk S, Thomas G, Aurias A. Hum. Mol. Genet. 5, 633-8, (1996). View articlePMID: 8733130

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