| Modification Notes |
Strumpellin, also known as SPG8 or KIAA0196, is a 1,159 amino acid ubiquitously expressed protein that is present at higher levels in skeletal muscle and prostate cancer cells, suggesting a role in tumorigenesis. Defects in the gene encoding Strumpellin are the cause of autosomal dominant spastic paraplegia type 8 (SPG8), characterized by the slow and gradual weakening of the legs, as well as muscle spasms, stiffness and incontinence. The gene encoding Strumpellin maps to human chromosome 8, which consists of nearly 146 million base pairs, houses more than 800 genes and is associated with a variety of diseases and malignancies. Schizophrenia, bipolar disorder, Trisomy 8, Pfeiffer syndrome, congenital hypothyroidism, Waardenburg syndrome and some leukemias and lymphomas are thought to occur as a result of defects in specific genes that map to chromosome 8. |