Protein transport protein Sec24D (SEC24D)

Protein transport protein Sec24D (SEC24D) is a cytoplasmic protein and a member of the SEC24 subfamily, which forms part of the coat protein complex II (COPII). COPII is essential for the formation of transport vesicles from the endoplasmic reticulum (ER) to the Golgi apparatus and is fundamental for the secretion of many proteins. SEC24D plays a central role in the selection and packaging of specific cargo proteins, particularly those required for cartilage extracellular matrix (such as type II collagen and matrilin), into COPII vesicles. Mutations in SEC24D disrupt the secretion of these proteins, resulting in developmental disorders such as Cole-Carpenter syndrome, characterized by craniofacial malformations and bone fragility. Its function appears to be especially critical in cells with high secretory demand, like differentiating chondrocytes during cartilage formation[1][2][3][4][5].

Other names

SEC24DKIAA0755CLCRP2SEC24-related protein DSEC24 homolog DCOPII coat complex componentSEC24 related gene family, member DSEC24DphSEC24DD6RAE2D6RBM1