Table 1.

Summary of the Genes Known to be Deleted in the 1q21.1 Region

GeneProteinFunctionExpression
PRKAB2Protein kinase, AMP-activated, β2 regulatory subunitReacts to high AMP/ATP ratio to downregulate biosynthetic pathway31Skeletal and cardiac muscle
FMO5Flavin containing monooxygenase 5Catalyzes oxidation of nucleophilic N, S, and P in drugs and pesticides32Spleen, liver, brain, breast, kidney
CHD1LChromodomain helicase DNA binding protein 1-likeTranscriptional regulation, chromatin remodeling, and DNA repair33,34Wide
BCL9B-cell CLL/lymphoma 9Overexpression associated with B-cell CLL35Ubiquitous
ACPL1Acid phosphatase-like protein 1Associated with interstitial cells of Cajal function14,36Small intestine, colon, pancreas, leukocytes
GJA5Connexin40Atrial ventricular conduction, haploinsufficiency is associated with structural heart defects7,9Heart conduction system and atria5
GJA8Connexin50Maintenance of human lens transparency, missense mutations cause pulverulent zonular cataract37Lens epithelium and fibre cells, retina, brain, cornea15