DiGeorge syndrome critical region gene 6-like (DGCR6L)

DiGeorge syndrome critical region gene 6-like (DGCR6L) encodes a protein of the gonadal family that is highly homologous to DGCR6, likely originating from a duplication event on chromosome 22q11.2. The protein is widely expressed in fetal and adult tissues and is implicated in cell migration, particularly neural crest cell migration into the third and fourth pharyngeal pouches, as well as cancer cell migration via direct interaction with the serine/threonine kinase PAK4 and manipulation of cytoskeletal regulators like LIMK1 and cofilin. Altered expression of DGCR6L is associated with 22q11.2 deletion syndrome (DiGeorge syndrome/velo-cardio-facial syndrome), contributing to variable neurodevelopmental, psychiatric, and developmental abnormalities. DGCR6L also exhibits differential expression in normal and tumor tissue, implicating it in cancer progression and metastasis. No direct evidence supports DGCR6L as a therapeutic target; drugs or interventions specifically targeting this protein have not been reported in current literature.

Other names

DGCR6LDiGeorge syndrome critical region 6-like proteinprotein DGCR6LhDGCR6LDGCR6LpFLJ10666B5MCQ4F8WCX1DGC6L_HUMAN