DGCR6L Human

DiGeorge Syndrome Critical Region Gene 6-Like (DGCR6L) is a gene located on chromosome 22q11.21. This gene is part of a region implicated in DiGeorge syndrome, a disorder characterized by congenital heart defects, facial dysmorphisms, and immune deficiencies. DGCR6L is one of two functional genes resulting from a duplication event, with its counterpart being DGCR6 .

DGCR6L and DGCR6 share a high degree of similarity, with their proteins being nearly identical. Both genes consist of five exons with conserved intron/exon structures . DGCR6L is expressed in various tissues, including the liver, heart, and skeletal muscle, but is notably absent in adult skeletal muscle and small intestine . The protein encoded by DGCR6L is involved in cell attachment and migration, sharing homology with the Drosophila gonadal protein and the human laminin gamma-1 chain .

The DGCR6L protein is believed to play a role in neural crest cell migration into the third and fourth pharyngeal pouches, which is crucial for the development of several structures in the body . Mutations or deletions in the DGCR6L gene can contribute to the phenotypic manifestations of DiGeorge syndrome and other related disorders, such as velocardiofacial syndrome .

The duplication event that gave rise to DGCR6L and DGCR6 is estimated to have occurred at least 12 million years ago, possibly before the divergence of Catarrhines from Platyrrhines, around 35 million years ago . This suggests that there has been selective evolutionary pressure to maintain the functional integrity of both paralogs.

DGCR6L is associated with several diseases, including prostate cancer and DiGeorge syndrome . The protein’s expression levels are elevated in various human tumor cell lines, indicating its potential role in cancer biology . Understanding the function and regulation of DGCR6L can provide insights into the molecular mechanisms underlying these diseases and aid in the development of targeted therapies.