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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
VPS13B Resources | ||
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