DiGeorge Syndrome Critical Region Gene 6 Like Protein (DGCR6L)

DGCR6L is a protein that shares homology with the Drosophila gonadal protein, expressed in gonadal tissues and germ cells, and with the human laminin gamma-1 chain that functions in cell attachment and migration. This gene is located in a region of chromosome 22 implicated in the DiGeorge syndrome, one facet of a broader collection of anomalies referred to as the CATCH 22 syndrome.The 2 cDNAs share 97% identity, and the deduced 220-amino acid proteins share 97% identity. There are 7 amino acid differences between them, 2 of which are conservative changes. PCR analysis using transcript-specific primers revealed DGCR6 expression in all adult and fetal tissues examined, whereas DGCR6L was expressed in all tissues tested except adult skeletal muscle and small intestine.