ACATN Polyclonal Antibody

disease:Defects in SLC33A1 are the cause of spastic paraplegia autosomal dominant type 42 (SPG42) [MIM:612539]. 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.,function:Probable acetyl-CoA transporter necessary for O-acetylation of gangliosides.,similarity:Belongs to the SLC33A transporter family.,tissue specificity:Ubiquitous. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas. With strongest signals in pancreas.,