RAB23

RAB23‏‎ is a member of the RAS oncogene family and is known to play a crucial role in the Sonic hedgehog signaling pathway, which is involved in the development and patterning of many body systems. It is also associated with Carpenter syndrome, a rare genetic disorder.

Function

RAB23‏‎ is a small GTPase, a type of enzyme that can hydrolyze guanosine triphosphate (GTP). It is involved in intracellular membrane trafficking, a process that transports proteins and lipids between different cellular compartments.

In the Sonic hedgehog signaling pathway, RAB23‏‎ acts as a negative regulator. This means it inhibits the pathway, preventing it from sending signals. This is important for controlling the development and growth of cells.

Clinical significance

Mutations in the RAB23‏‎ gene have been linked to Carpenter syndrome, a condition characterized by abnormalities of the skull, fingers and toes, obesity, and other health problems. The exact role of RAB23‏‎ in this syndrome is not fully understood, but it is thought to be related to its function in the Sonic hedgehog signaling pathway.

See also

• RAS oncogene family
• Sonic hedgehog
• Carpenter syndrome
• GTPase
• Guanosine triphosphate

References

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