GOLGB1
Description
The GOLGB1 (golgin B1) is a protein-coding gene located on chromosome 3.
Giantin, encoded by the GOLGB1 gene, is a protein found at the edges of the Golgi apparatus and helps organize the Golgi matrix, which is important for moving proteins along the secretory pathway. This process ensures proteins reach their correct destinations, like the cell surface or outside the cell, which is crucial for cell function. Studies in mice, rats, and zebrafish have shown that a lack of GOLGB1 can cause different levels of craniofacial defects, suggesting its importance in development. While some zebrafish models showed only minor size problems, adult zebrafish lacking GOLGB1 exhibited a bone disease called tumoral calcinosis, which is also linked to defects in glycosyltransferase function in humans. Giantin is a dimer linked by disulfide bonds and has many coiled-coil regions. It interacts with various proteins, including ACBD3, PLK3, Rab1, Rab6, P115, and GM130, and has been suggested to play a role in primary cilia function, regulating glycosyltransferase expression, and calcineurin signaling.
May play a role in creating connections between different compartments (cisternae) within the Golgi apparatus.
GOLGB1 is also known as GCP, GCP372, GOLIM1.
Associated Diseases
- cancer
- asthma
- childhood onset asthma
- multiple sclerosis
- cleft palate-lateral synechia syndrome
- orofacial cleft 11
- orofacial cleft 10
- orofacial cleft 5
- bifid uvula
- ankyloblepharon filiforme adnatum-cleft palate syndrome
- cleft palate with or without ankyloglossia, X-linked
- van der Woude syndrome 1
