Recombinant Human Vacuolar protein sorting-associated protein 13B (VPS13B), partial

1. Here, we present an 11-month-old girl with CS caused by two multi-exonic small deletions in VSP13B in trans. PMID: 28631888
2. VPS13B mutation is asociated with Cohen syndrome. PMID: 29149870
3. Novel VPS13B deletion mutations in three large Pakistani Cohen Syndrome families suggests a Baloch variant with Autistic-Like features. PMID: 26104215
4. This report emphasizes the value of a broad-based whole exome sequencing approach in disease gene identification in the syndromic retinal dystrophies, where all disease characteristics may not be present in young patients to allow a clinical diagnosis. PMID: 25060287
5. Association of COH1 with the Golgi complex is mediated by its interaction with RAB6 and is required for neurite outgrowth. PMID: 25492866
6. This observation emphasizes that VPS13B analysis should be performed in cases of congenital neutropenia associated with retinopathy, even in the absence of ID, therefore extending the VPS13B phenotype spectrum. PMID: 24311531
7. COH1 as a Golgi-associated matrix protein required for Golgi integrity. PMID: 21865173
8. This high frequency of causal submicroscopic chromosomal aberrations in patients with congenital ocular malformation warrants implementation of array comparative genomic hybridization in the diagnostic work-up of these patients. PMID: 21353197
9. This study confirms that COH1 copy number variations are a frequent cause of Cohen syndrome and consist of intragenic deletions as well as duplications. PMID: 20461111
10. VPS13B gene, via affecting bone mineral density and femoral neck cross-sectional geometric parameters, is a novel osteoporosis risk gene. PMID: 19680589
11. VPS13B screening is not indicated in the absence of chorioretinal dystrophy or neutropenia in patients aged over 5 years. PMID: 20656880
12. A mutated gene on chromosome 8q22 found by haplotype analysis in patients with this syndrome. PMID: 12730828
13. COH1 mutations is associated with Cohen syndrome PMID: 15141358
14. Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome PMID: 15154116
15. detected 15 COH1 alterations most of them were truncating mutations, only one being a missense change. A single base deletion leading to p.T3708fs3769, never reported before, was found in three apparently unrelated families PMID: 17990063
16. A new deletion in COH1 causing Cohen syndrome was detected in a Greek island population. PMID: 18655112
17. Mutation analysis of COH1 in twelve novel patients with Cohen syndrome from nine families, was carried out. PMID: 19006247
18. Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome PMID: 19533689

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HGNC: 2183

OMIM: 216550

KEGG: hsa:157680

STRING: 9606.ENSP00000351346

UniGene: Hs.191540