Table 2 Genes related to omphalocele (MalaCards 2019; 2013 GRCh38/hg38)
Genes | Location | Activity | References |
|---|---|---|---|
PLOD1 (Procollagen-lysine, 2-oxoglutarate 5dioxygenase1) | 1p36.22 | Epidermis development, stability of the intermolecular collagen cross-links. high expressed in skeletal and smooth muscle | Tosun et al., 2014 [39] |
Msx1 (Msh homeobox 1) | 4p16.2 | Embryonic morphogenesis, multicellular organism development. Regulation of cellular proliferation and differentiation | Doi et al., 2010 [40] |
Msx2 (Msh homeobox 2) | 5q35.2 | ||
NUAK1 (SNF1-like kinase, 1) Omphalocele kinase 1 | 12q23.3 | Regulation of cell adhesion and cell proliferation. Expressed in heart, brain, skeletal and smooth muscle | 2013 GRCh38/hg38 |
NUAK2 (SNF1-like kinase, 2) Omphalocele kinase 2 | 1q32.1 | ||
GJB2 (Gap Junction Beta-2 Protein) | 13q12.11 | Connexin family. Cell communication expressed in the suprabasal layer of the epidermis. | Zhou et al., 2018 [31] |
GLCE (D-glucuronyl C5-epimerase) | 15q23 | Highly expressed in the digestive tract and the skin | Zhou et al., 2018 [31] |
RPLP1 (ribosomal protein lateral stalk subunit P1) | 15q23 | Structural constituent of ribosome, activator of protein kinase activity | Zhou et al., 2018 [31] |