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Table 2 Genes related to omphalocele (MalaCards 2019; 2013 GRCh38/hg38)

From: Omphalocele: a review of common genetic etiologies

GenesLocationActivityReferences
PLOD1 (Procollagen-lysine, 2-oxoglutarate 5dioxygenase1)1p36.22Epidermis development, stability of the intermolecular collagen cross-links.
high expressed in skeletal and smooth muscle
Tosun et al., 2014 [39]
Msx1 (Msh homeobox 1)4p16.2Embryonic morphogenesis, multicellular organism development. Regulation of cellular proliferation and differentiationDoi et al., 2010 [40]
Msx2 (Msh homeobox 2)5q35.2
NUAK1 (SNF1-like kinase, 1)
Omphalocele kinase 1
12q23.3Regulation of cell adhesion and cell proliferation. Expressed in heart, brain, skeletal and smooth muscle2013 GRCh38/hg38
NUAK2 (SNF1-like kinase, 2)
Omphalocele kinase 2
1q32.1
GJB2 (Gap Junction Beta-2 Protein)13q12.11Connexin family. Cell communication expressed in the suprabasal layer of the epidermis.Zhou et al., 2018 [31]
GLCE (D-glucuronyl C5-epimerase)15q23Highly expressed in the digestive tract and the skinZhou et al., 2018 [31]
RPLP1 (ribosomal protein lateral stalk subunit P1)15q23Structural constituent of ribosome, activator of protein kinase activityZhou et al., 2018 [31]