Member database | Pfam |
Pfam type | family |
Short name | DGCR6 |
Author | Vella Briffa B;0000-0003-4380-1783 |
Sequence Ontology | 0100021 |
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