VPS13B
| vacuolar protein sorting 13B (yeast) | |
|---|---|
| Identifiers | |
| Symbol | VPS13B |
| Alt. symbols | CHS1, COH1 |
| Entrez | 157680 |
| HUGO | 2183 |
| OMIM | 607817 |
| RefSeq | NM_184042 |
| UniProt | Q7Z7G8 |
| Other data | |
| Locus | Chr. 8 q22-q23 |
VPS13B is a giant protein associated with the Golgi apparatus. The human homologue, COH1, has 3997 amino acids, and mutation in the human COH1 gene cause Cohen syndrome. COH1 depletion in HeLa cells by RNA interference disrupts normal Golgi organization. Fibroblasts from Cohen syndrome patients also have abnormal Golgi.[1] Cohen syndrome patients have been shown to have defective protein glycosylation,[2] which is a major function of the Golgi, ths supporting the suggestion that Golgi dysfunction contributes to Cohen syndrome pathology.[1]
References
External links
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- ↑ 1.0 1.1 Seifert W, Kühnisch J, Maritzen T, Horn D, Haucke V, Hennies HC (2011). "Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity". The Journal of Biological Chemistry. 286 (43): 37665–75. doi:10.1074/jbc.M111.267971. PMC 3199510. PMID 21865173.
- ↑ Duplomb L, Duvet S, Picot D, Jego G, El Chehadeh-Djebbar S, Marle N, Gigot N, Aral B, Carmignac V, Thevenon J, Lopez E, Rivière JB, Klein A, Philippe C, Droin N, Blair E, Girodon F, Donadieu J, Bellanné-Chantelot C, Delva L, Michalski JC, Solary E, Faivre L, Foulquier F, Thauvin-Robinet C (2014). "Cohen syndrome is associated with major glycosylation defects". Human Molecular Genetics. 23 (9): 2391–9. doi:10.1093/hmg/ddt630. PMID 24334764.