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SBF2 encodes a pseudophosphatase and member of the myotubularin-related protein family. Additionally we are shipping and and many more products for this protein.
Starvation-induced MTMR13 and RAB21 (show RAB21 ELISA Kits) activity regulates VAMP8 (show VAMP8 ELISA Kits) to promote autophagosome-lysosome fusion.
SBF2 frameshift mutation is associated with charcot-marie-tooth disease type 4B2.
Identification of a novel SBF2 missense mutation associated with a rare case of thrombocytopenia using whole-exome sequencing.
Germline genetic variation in the SBF2 locus was associated with overall survival in patients with pancreatic adenocarcinoma of European and Asian ancestry.
REVIEW : MTMR13 and homologous proteins are mutated in several neuromuscular diseases
A phylogenetic study revealing co-evolution of myotubularins with PI 3 (show PI3 ELISA Kits)-kinase class III complex
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
A loss-of-function mutation in SBF2/MTMR13 causes CMT4B (show MTMR2 ELISA Kits) with early-onset glaucoma, possibly by degradation of SBF2 mRNA thru the nonsense mutation decay pathway.
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.
Loss of MTMR13 (SBF2) function in Charcot-Marie-Tooth disease type 4B patients may lead to alterations in MTMR2 (show MTMR2 ELISA Kits) function and subsequent alterations in 3-phosphoinositide signaling.
Mtmr2 (show MTMR2 ELISA Kits) and Mtmr13 depend upon each other to achieve wild-type levels of protein expression. Mtmr2 (show MTMR2 ELISA Kits) stabilizes Mtmr13 on membranes, indicating that the Mtmr13 pseudophosphatase is regulated by its catalytically active binding partner.
data indicate that Mtmr2 (show MTMR2 ELISA Kits) and Mtmr13/Sbf2 play critical roles in the sorting and modulation of cellular signalling which are likely to be disturbed in Charcot-Marie-Tooth disease type 4B
mRNA expression and subcellular localization of Sbf2.
Mtmr13 deficient mice are animal models for Charcot Marie Tooth disease.
Mtmr13-deficient mice develop a peripheral neuropathy characterized by reduced nerve conduction velocity and myelin outfoldings and infoldings.
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2.
SET binding factor 2
, myotubularin related protein 13
, myotubularin-related protein 13-like
, DENN/MADD domain containing 7B
, myotubularin-related protein 13
, SET-binding factor 2
, myotubularin-related protein 5