RAB1B
RAB1B Gene: A Master Regulator in Cell Trafficking
Description
The RAB1B gene encodes the Rab1B protein, a member of the Rab family of small GTPases. Rab proteins act as molecular switches, controlling various aspects of intracellular membrane trafficking. RAB1B is specifically involved in the recycling of early endosomes back to the plasma membrane.
Associated Diseases
Mutations in the RAB1B gene have been linked to several human disorders, including:
- Warburg Micro Syndrome: A rare genetic disorder characterized by intellectual disability, distinctive facial features, and growth abnormalities.
- Smith-Lemli-Opitz Syndrome (SLOS): A congenital malformation syndrome caused by a defect in cholesterol biosynthesis.
- Robinow Syndrome: A rare genetic disorder characterized by distinctive facial features, short stature, and skeletal abnormalities.
- XLID with Hypotonia and Microcephaly: An X-linked intellectual disability syndrome associated with hypotonia and microcephaly.
Did you Know ?
Approximately 1 in 100,000 individuals has Warburg Micro Syndrome caused by mutations in the RAB1B gene.
