SPG11 Antibody – Rabbit Polyclonal

SPG11: Defects in SPG11 are the cause of spastic paraplegia autosomal recessive type 11 (SPG11). 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. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, multi-pass; Membrane protein, integral

Chromosomal Location of Human Ortholog: 15q14

Cellular Component: lysosomal membrane; cytoplasm; integral to membrane; plasma membrane; nucleolus; cytoplasmic vesicle; cytosol

Molecular Function: protein binding

Disease: Spastic Paraplegia 11, Autosomal Recessive