Meyahealth
HomeGeneticsGeneVPS13B gene
Back to Gene
VPS13B gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

VPS13B gene

The VPS13B gene, also known as COH1, plays a key role in protein modification and transport within the Golgi apparatus, and is essential for normal development.

Overview

The VPS13B gene (also called the COH1 gene) produces a protein that is part of the Golgi apparatus, a cell structure responsible for modifying proteins. The VPS13B protein is involved in glycosylation (the attachment of sugar molecules to proteins) and the sorting and transporting of proteins within the cell. It appears to be important for the development of nerve cells (neurons) and adipocytes (fat-storing cells).

Health Conditions Related to Genetic Changes

Cohen syndrome

More than 150 different mutations in the VPS13B gene have been identified in individuals with Cohen syndrome. This condition is characterized by intellectual disability, eye problems, distinctive facial features, and truncal obesity.

  • Mechanism: Most mutations result in a premature stop signal, leading to the production of a nonfunctional, abnormally short protein.
  • Cellular Impact: The loss of function disrupts the organization of the Golgi apparatus and impairs normal glycosylation.
  • Clinical Features: Researchers believe that impaired neuron development leads to intellectual disability and eye issues, while abnormal fat storage contributes to truncal obesity.

Specific mutations have been identified in certain populations, such as a two-base-pair deletion common in the Finnish population and specific insertions or amino acid substitutions found in the Old Order Amish population.

Other Names for This Gene

  • CHS1
  • COH1
  • Cohen syndrome 1
  • DKFZp313I0811
  • KIAA0532
  • vacuolar protein sorting 13 homolog B (yeast)
  • vacuolar protein sorting 13B
  • VP13B_HUMAN

Frequently Asked Questions

Cohen syndrome is characterized by several key features, including intellectual disability, various eye problems, distinctive facial features, and truncal obesity (excess fat around the torso). These can impact daily life through learning difficulties, vision impairment, and challenges with mobility due to obesity.
Yes, Cohen syndrome is an inherited condition caused by mutations in the VPS13B gene. It is typically inherited in an autosomal recessive pattern, meaning an individual must inherit two copies of the mutated gene (one from each parent) to develop the syndrome. Parents who are carriers usually do not show symptoms but have a 25% chance of having an affected child with each pregnancy. Genetic counseling can provide detailed information for family planning.
Management for Cohen syndrome is supportive and multidisciplinary, addressing the various symptoms. This often includes special education and early intervention programs for intellectual disability, ophthalmological care for eye problems, nutritional guidance and physical activity to manage truncal obesity, and speech and occupational therapies as needed. Regular medical follow-ups are important to monitor overall health.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

Meyahealth

Ⓒ 2026. All rights reserved by MEYA

About UsTerms & PolicyFAQ