功能： disease:Defects in ZFYVE26 are the cause of spastic paraplegia autosomal recessive type 15 (SPG15) [MIM:270700]; also known as spastic paraplegia and retinal degeneration or Kjellin syndrome. 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. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or mental retardation, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration.,sequence caution:Translated as Gln.,similarity:Contains 1 FYVE-type zinc finger.,tissue specificity:Strongest expression in the adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. Intermediate levels are detected in other structures, including the spinal cord.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Midbody . Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A.
组织表达： Strongest expression in the adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. Intermediate levels are detected in other structures, including the spinal cord.
功能： disease:Defects in ZFYVE26 are the cause of spastic paraplegia autosomal recessive type 15 (SPG15) [MIM:270700]; also known as spastic paraplegia and retinal degeneration or Kjellin syndrome. 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. SPG15 is a complex form associated with additional neurological symptoms such as cognitive deterioration or mental retardation, axonal neuropathy, mild cerebellar signs, and, less frequently, a central hearing deficit, decreased visual acuity, or retinal degeneration.,sequence caution:Translated as Gln.,similarity:Contains 1 FYVE-type zinc finger.,tissue specificity:Strongest expression in the adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. Intermediate levels are detected in other structures, including the spinal cord.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytoskeleton, microtubule organizing center, centrosome . Midbody . Localizes to the centrosome during all stages of the cell cycle. Recruited to the midbody during cytokinesis by KIF13A.
组织表达： Strongest expression in the adrenal gland, bone marrow, adult brain, fetal brain, lung, placenta, prostate, skeletal muscle, testis, thymus, and retina. Intermediate levels are detected in other structures, including the spinal cord.
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