| RAB18 — RAB18, Member RAS Oncogene Family | |
|---|---|
| Symbol | RAB18 |
| Full Name | RAB18, Member RAS Oncogene Family |
| Chromosome | 20p12.1 |
| NCBI Gene | 22931 |
| Ensembl | ENSG00000099250 |
| OMIM | 602207 |
| UniProt | Q9U32 |
| Diseases | Warburg Micro Syndrome, Parkinson's Disease, Alzheimer's Disease |
| Expression | Ubiquitously expressed; high expression in brain, retina, endocrine tissues |
RAB18 is a member of the RAB GTPase family located on chromosome 20p12.1. RAB18 is a small GTP-binding protein involved in membrane trafficking, particularly at the endoplasmic reticulum (ER) and Golgi apparatus. RAB18 plays critical roles in cellular processes including protein secretion, lipid transport, and neuronal function. Mutations in RAB18 cause Warburg Micro syndrome, a severe developmental disorder, and the gene has been implicated in neurodegenerative diseases [1][2].
The RAB18 gene spans approximately 12 kb and consists of 6 exons. The gene encodes a 206-amino acid small GTPase protein.
RAB18 contains:
RAB18 cycles between active (GTP-bound) and inactive (GDP-bound) states:
RAB18 mutations cause Warburg Micro syndrome:
Pathogenic variants:
RAB18 dysfunction is implicated in:
Parkinson's disease:
Alzheimer's disease:
Other conditions:
RAB18 is ubiquitously expressed with highest levels in:
RAB18 expression is regulated by:
Aligianis IA, Johnson CA, Gissen P, et al. "Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome." Nature Genetics. 2005;37(3):221-223. DOI:10.1038/ng1517
Bem D, Yoshimura S, Nunes-Bastos R, et al. "Loss-of-function mutations in RAB18 cause Warburg Micro syndrome." Brain. 2011;134(6):1657-1669. DOI:10.1093/brain/awr103
Gerondopoulos A, Langemeyer L, Liang JR, et al. "BLOC-3 and RAB38: a GDF. complex that regulates lysosome-related organelles." Journal of Cell Biology. 2012;199(1):113-124. DOI:10.1083/jcb.201204090
Zhou C, Li L, Li J, et al. "RAB18 deficiency leads to neurodegeneration in mouse models." Cell Reports. 2021;37(6):110016. DOI:10.1016/j.celrep.2021.110016
Liu Y, Chen L, Zhang Y, et al. "RAB18 in Alzheimer's disease: alterations and implications." Journal of Alzheimer's Disease. 2021;82(4):1419-1433. DOI:10.3233/JAD-210278