VPS13B

VPS13B also known as vacuolar protein sorting-associated protein 13B is a protein that in humans is encoded by the VPS13B gene. It is a giant protein associated with the Golgi apparatus that is believed to be involved in post Golgi apparatus sorting and trafficking. Mutations in the human VPS13B gene cause Cohen syndrome. VPS13B also known as vacuolar protein sorting-associated protein 13B is a protein that in humans is encoded by the VPS13B gene. It is a giant protein associated with the Golgi apparatus that is believed to be involved in post Golgi apparatus sorting and trafficking. Mutations in the human VPS13B gene cause Cohen syndrome. VPS13B gene is also referred to as CHS1, COH1, KIAA0532, and DKFZp313I0811. Cytogenetic location of the human VPS13B gene is 8q22, which is the long arm of chromosome eight at position 22.2. There has been various splice variants encoding isoforms identified. The canonical form of the expressed protein encoded by the human VPS13B gene has 3997 amino acids. The VPS13B gene is located on chromosome 8q22, and which deletions in this chromosome are associated with Cohen Syndrome, which is why this gene is alternatively called COH1. The gene is made up of 66 exons, 4 of which are alternative. The pattern of alternative splicing in the VS13B gene is complex in the analyzed regions including exons 28B and 28. This eventually causes 4 termination codons and 3 alternatively spliced forms to be in use. Exon 2 is where its translation start codon occurs. VPS13B is a large gene; It spans a genomic DNA sequence region of about 864 kilobase pairs, or 846,000 base pairs. The VPS13B gene is widely expressed, especially in prostate, testis, ovary, and colon with transcripts of about 12 to 14 kilobase pairs. It is also expressed in fetal brain, liver, and kidney, with transcripts of about 2.0 to 5.0 kilobase pairs. Expression in the adult brain is very minimal. Variants 1A and 2A are the principle variants of the gene that encodes a 4,022 and 39,997 amino acid protein, respectively. 2 Alu repeat sequences are present in the three prime untranslated region. The VPS13B gene is also known as: Proteins produced from the VPS13B gene area part of the Golgi apparatus. They are also responsible for sorting and transporting of proteins inside of the cell. The VPS13B protein is important because it plays an important role in the function of normal growth, the development of neurons, and the development of adipocytes. This protein may also play a role in the development of the function for eyes, the hematological system, the central nervous system, and in the storage and distribution of fats in the body. The VPS13B is found at locus 8q22.2. This means that the VPS13B gene is located on chromosome 8 at position 22.2 on the long q arm at 8q22.2. 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. Presently, the VPS13B gene is recognized as a protein-coding gene that produces the VPS13B protein. The VPS13B protein has been associated with the Golgi apparatus and intracellular processes such as protein modification, protein organization, and protein distribution. 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. Mutations in the VPS13B gene can result in the abnormal function of the VPS13B protein. Mutations within the gene have been linked as a potential factor in Cohen Syndrome and autism. In Cohen syndrome, it is thought that deletion mutations in the gene alter the shape of the VPS13B protein, resulting in a shorter, nonfunctioning protein. Altered VPS13B protein is then unable to function properly due to these genetic changes, thus resulting in an obstruction of regular processes. Studies have also linked mutations in the VPS13B gene to osteoporosis. An association between an increase of the VPS13B copy number variants and a lower bone mineral density in adults has been found. Still, the normal, definitive function of the VPS13B gene is unknown, as are the specific implications of its mutated forms. Over 150 types of different mutations in the VPS13B gene have been identified in individuals diagnosed with Cohen syndrome. A deletion in the VPS13B gene causes a premature stop signal in the instructions for making the VPS13B protein, causing the protein to become abnormally short and nonfunctional. When this happens, the nonfunctional protein causes the Golgi apparatus not to work properly and stops normal glycosylation.