1x4u
From Proteopedia
Solution structure of the FYVE domain from human FYVE domain containing 27 isoform b protein
Structural highlights
DiseaseZFY27_HUMAN Defects in ZFYVE27 are the cause of spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Note=According to PubMed:18606302, the properties of the variant Val-191 and its frequency in some populations raise doubts on the implication of that gene in the disease.[1] [2] FunctionZFY27_HUMAN Functions as an upstream inhibitor of RAB11, regulating directional protein transport to the forming neurites. Involved in nerve growth factor-induced neurite formation. May have a more general role in cell projections formation.[3] [4] Evolutionary Conservation Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf. References
| ||||||||||||||||||||
