Background of the antigen
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease characterized by loss of motor neurons in the spinal cord. SMA is caused by deletion or loss-of-function mutations in the SMN (Survival of Motor Neuron) gene. Gemin6, the protein product of human chromosome 2p22.2, associates directly with SMN and is a part of the SMN complex containing Gemin2, Gemin3, Gemin4 and Gemin5 as well as several spliceosomal snRNP proteins. The SMN complex plays an essential role in spliceosomal snRNP assembly in the cytoplasm and is required for pre-mRNA splicing of the nucleus. The SMN complex is found in both the cytoplasm and the nucleus. The nuclear form is concentrated in subnuclear bodies called gems (Gemini of the coiled bodies).
