User:Abigailmadeo96/sandbox

Overview
VPS13B gene is also referred to the COH1 gene VP13B_human, and CHS1. The full name for VPS13B is vacuolar protein sorting 13 homolog B in human and in yeast it is vacuolar protein sorting 13 homolog B in yeast. Cytogenetic location of the gene is 8q22, which is the long arm of chromosome eight at position 22.2. Deletions in this gene is a cause of autosomal recessive Cohen syndrome. Cohen syndrome is an autosomal recessive disorder that is characterized by facial dysmorphism, microcephaly, joint laxity and intermittent neutropenia. Cohen syndrome is inherited in an autosomal recessive manner, which means there is a 50 percent chance of being a carrier. Retinal dystrophy in mid-childhood is one of many symptoms of Cohen syndrome. Children of people with this syndrome are carriers for the syndrome.

Studies show that the gene produces a protein that is a part of the Golgi apparatus; VPS13B protein is involved sorting and transporting of proteins inside the cell. According to studies, the loss of protein function impairs glycosylation. This protein plays a role in the development and function of the central nervous system and the eye. For this gene, there has been various splice variants encoding isoforms identified. Syndromic autism is also associated with this gene. Seventy-five percent of individuals with Cohen syndrome, in the Finnish population, have a mutation in both copies of the gene. Mutations in the gene VPS13B only occur in a small number of families, outside of Finnish and Amish groups.