VPS13B

VPS13B is a protein that in humans is encoded by the VPS13B gene. It is also known as Cohen syndrome protein, named after the disorder it is associated with when mutated.

Function

The VPS13B protein is involved in the regulation of intracellular processes such as protein sorting and processing. It is also thought to play a role in maintaining the integrity of the Golgi apparatus, a cellular organelle involved in the modification and transport of proteins.

Clinical significance

Mutations in the VPS13B gene are associated with Cohen syndrome, a rare autosomal recessive genetic disorder. Symptoms of Cohen syndrome include developmental delay, intellectual disability, microcephaly, and distinctive facial features.

Genetics

The VPS13B gene is located on the long (q) arm of chromosome 8 at position 23.2. It spans a length of approximately 879,000 base pairs. The gene is composed of 62 exons.

See also

• VPS13A
• VPS13C
• VPS13D

External links

• NCBI Gene
• Genetics Home Reference