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SMN1 is the telomeric copy of the gene encoding the SMN protein; the centromeric copy is termed SMN2. SMN1 and SMN2 are part of a 500 kbp inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of ...
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes. SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. [2]
SMA is a neuromuscular disorder caused by a mutation in the SMN1 gene, which leads to a decrease in SMN protein, a protein necessary for survival of motor neurons. Onasemnogene abeparvovec is a biologic drug consisting of AAV9 virus capsids that contains a SMN1 transgene along with synthetic promoters. [5]
Illustration of how a normal cell is converted to a cancer cell, when an oncogene becomes activated. An oncogene is a gene that has the potential to cause cancer. [1] In tumor cells, these genes are often mutated, or expressed at high levels. [2]
SMA is a category of spinal disease that in linked with genetic disorders. More specifically, it is caused by an autosomal recessive disorder due to a homozygous mutation of a motor neuron gene. [3] There are different types of SMA. Type 0 is diagnosed to newborns who have muscle weakness, and little to no "fetal movements."
Defective function of the survival of motor neuron (SMN) protein in snRNP biogenesis, caused by a genetic defect in the SMN1 gene which codes for SMN, may account for the motor neuron pathology observed in the genetic disorder spinal muscular atrophy.
An Ohio college student was coming back from her grandfather’s funeral in Kansas when she was killed in the catastrophic Washington, DC, plane crash — leaving her family struck by grief twice ...
Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes.It focuses on genomic, epigenomic and transcript alterations in cancer. Cancer is a genetic disease caused by accumulation of DNA mutations and epigenetic alterations leading to unrestrained cell proliferation and neoplasm formation.