[9] The VPS13B gene is widely expressed, especially in the prostate, testis, ovary, and colon with transcripts of about 12 to 14 kilobase pairs.

[13] The VPS13B protein is composed of 4,022 amino acids and might have a total of ten trans-membrane domains and a complex pattern of functional motifs.

[17] It has also been speculated that the VPS13B protein may influence the development of certain somatic cells and body systems, and may be involved in the storing and allocation of fats in humans.

[17][19] Altered VPS13B protein is then unable to function properly due to these genetic changes, thus resulting in an obstruction of regular processes.

[8] An association between an increase of the VPS13B copy number variants and a lower bone mineral density in adults has been found.

[13] When this happens, the nonfunctional protein causes the Golgi apparatus not to work properly and stops normal glycosylation.

[21] Cohen syndrome is a very rare inherited genetic condition which has been diagnosed in almost one thousand people worldwide.

Microcephaly, hypotonia, worsening eyesight, retinal dystrophy, delayed puberty, hyper mobility, and obesity are just a few examples.

They have bulging noses, unusually shaped eyes, thick hair, narrow hands and feet, and long, thin fingers.

[24] It begins with failure to thrive in infants and children, and then the developmental delays start to show: microcephaly, retinochorodial dystrophy, psychomotor retardation, high myopia, neutropenia, joint hyper mobility and the distinct facial features start forming.

[25] In many instances where speech delay is prominent in this syndrome, aphthous ulcers develop inside the mouth, causing pain.

[24] Patients with this syndrome are also known to suffer from seizures, narrow hands and feet, and growth hormone deficiencies.

[26] Cohen syndrome is an autosomal recessive disorder that is characterized by mainly facial dysmorphism, microcephaly, joint laxity and intermittent neutropenia.

[17] Another disease that the VPS13B gene contributes to is neutropenia, which involves a low concentration of neutrophils,[27] a type of white blood cell.

[30] In most cases, people with microcephaly experience seizures, development delays, and problems with movement, balance, and eating.