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Table 1 Genes in the Identified 3q29 Deleted Region

From: A novel proximal 3q29 chromosome microdeletion in a Chinese patient with Chiari malformation type II and Sprengel’s deformity

Gene Function
ACAP2 ACAP2 is an Arf-6 GTPase-activating protein. The main function of ACAP2 is to controlling the return of Arf-6 to the inactive GDP-bound state, which is very critical in Arf-6 function regulation.
XXYLT1 XXYLT1 encodes an α-1,3-xylosyltransferase. It can catalyze the addition of the second xylose to elongate the xylose-glucose disaccharide in the extracellular domain of Notch proteins.