SBF2 Antibody

1. Rare variants in SBF2 predict an increased risk of taxane-induced peripheral neuropathy in African American breast cancer patients receiving paclitaxel. PMID: 27732968
2. SBF2, encoding another myotubularin member MTMR13, may promote the progression of pancreatic cancer via the TGF-beta signaling by raising the activated R-SMADs and decreasing inhibitory SMAD-7. PMID: 25882882
3. Starvation-induced MTMR13 and RAB21 activity regulates VAMP8 to promote autophagosome-lysosome fusion. PMID: 25648148
4. SBF2 frameshift mutation is associated with charcot-marie-tooth disease type 4B2. PMID: 25462154
5. Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing. PMID: 23334996
6. Germline genetic variation in the SBF2 locus was associated with overall survival in patients with pancreatic adenocarcinoma of European and Asian ancestry. PMID: 23180869
7. REVIEW : MTMR13 and homologous proteins are mutated in several neuromuscular diseases PMID: 18429927
8. A phylogenetic study revealing co-evolution of myotubularins with PI 3-kinase class III complex PMID: 18774718
9. Mutations in MTMR13 were associated with a syndrome of demyelinating Charcot-Marie-Tooth disease and early onset glaucoma; MTMR13 may be important for the development of both the peripheral nerves and the trabeculum meshwork PMID: 12687498
10. A loss-of-function mutation in SBF2/MTMR13 causes CMT4B with early-onset glaucoma, possibly by degradation of SBF2 mRNA thru the nonsense mutation decay pathway. PMID: 15304601
11. The first evidence of a mutation in the splicing site of the SBF2 gene, confirming that mutations in the SBF2 gene are causative of the CMT4B2 subtype of Charcot-Marie-Tooth disease. PMID: 15477569
12. Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 function and subsequent alterations in 3-phosphoinositide signaling. PMID: 15998640
13. review of the role of MTMR2 and MTMR13 and their involvement in the biology of Schwann cell and CMT4B neuropathies PMID: 17880751
14. FLNB and SBF2 are associated with human stature. PMID: 19039035

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HGNC: 2135

OMIM: 604563

KEGG: hsa:81846

STRING: 9606.ENSP00000256190

UniGene: Hs.577252