GOLT1B
Description
The GOLT1B (golgi transport 1B) is a protein-coding gene located on chromosome 12.
GOLT1B is a protein that is encoded by the GOLT1B gene in humans. It is involved in vesicle transport through the Golgi apparatus of the cell. The protein is a tetra-spanning membrane protein and is evolutionarily conserved. Homologs of the protein have been found in Caenorhabditis elegans, Plasmodium falciparum, and in mammals. GOLT1B is normally closely associated with Sf2p (encoded by sft2), which is another protein with a similar function. In vivo, the removal of these two proteins results in defects in endosome-Golgi traffic and ER-Golgi traffic. In vitro, the removal of GOLT1B specifically results in a defect in ER-Golgi transport in relation to vesicle tethering to Golgi membranes. The exact contribution that the protein has towards vesicle tethering is still a mystery, however, it is suspected that GOLT1B is involved in the release of Ca2+ in the Golgi membranes, causing ion channels associated with vesicle tethering to be affected.
GOLT1B is also known as CGI-141, GCT2, GOT1, GOT1B, YMR292W.
Associated Diseases
- cancer
- Brugada syndrome
- familial sick sinus syndrome
- trimethylaminuria
- hypertrophic cardiomyopathy 6
- immunodeficiency 75
- long QT syndrome 9
- hemoglobin H disease
- dominant beta-thalassemia
- long QT syndrome 15
- sick sinus syndrome 2, autosomal dominant
- arrhythmogenic right ventricular dysplasia 10
- glycoprotein storage disease
