human SMN1 shRNA silencing AAV

BCD541; component of gems 1; GEMIN1; gemin-1; SMA; SMA@; SMA1; SMA2; SMA3; SMA4; SMN; SMNT; survival motor neuron 1 protein; survival motor neuron protein; T-BCD541; TDRD16A; tudor domain containing 16A

Survival motor neuron protein (SMN1) has been identified as the gene that is defective in spinal muscular atrophy (SMA), a neurodegenerative autosomal recessive disease characterized by paralysis and muscular atrophy which results from the loss of motor neurons in the spinal cord. There are two closely related SMN genes that do not appear to be functionally redundant. SMN1 represents the telomeric copy while SMN2 represents the centromeric copy. In the cell, SMN1 is part of a large complex of proteins involved in snRNP biogenesis. The functional role of SMN1 is proposed to play a role in messenger and ribosomal RNA transcription and processing.

SMN1 is part of a 500 kb 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 the sequence have also caused difficulty in determining the organization of this genomic region. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. However, mutations in this gene, the telomeric copy, are associated with spinal muscular atrophy; mutations in the centromeric copy do not lead to disease. The centromeric copy may be a modifier of disease caused by mutation in the telomeric copy. The critical sequence difference between the two genes is a single nucleotide in exon 7, which is thought to be an exon splice enhancer. Note that the nine exons of both the telomeric and centromeric copies are designated historically as exon 1, 2a, 2b, and 3-8. It is thought that gene conversion events may involve the two genes, leading to varying copy numbers of each gene. The protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, the protein localizes to subnuclear bodies called gems which are found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and also interacts with several proteins known to be involved in the biogenesis of snRNPs, such as hnRNP U protein and the small nucleolar RNA binding protein. Two transcript variants encoding distinct isoforms have been described.

6606

survival of motor neuron 1, telomeric

survival of motor neuron 1, telomeric

SMN1

HGNC:11117

9606.0

885

Survival motor neuron protein

NM_000344

NM_022874, NM_001297715, NM_000344, BC062723,

Gene Expression,mRNA Processing,mRNA Splicing,Neurobiology,Neurodegeneration,Neurodevelopment,Neurogenesis,RNA Binding,RNA Processing,RNA Transport

cell_biology,developmental_biology,genetics,neurobiology,transcription_translation

human

Survival motor neuron protein (SMN1) has been identified as the gene that is defective in spinal muscular atrophy (SMA), a neurodegenerative autosomal recessive disease characterized by paralysis and muscular atrophy which results from the loss of motor neurons in the spinal cord. There are two closely related SMN genes that do not appear to be functionally redundant. SMN1 represents the telomeric copy while SMN2 represents the centromeric copy. In the cell, SMN1 is part of a large complex of proteins involved in snRNP biogenesis. The functional role of SMN1 is proposed to play a role in messenger and ribosomal RNA transcription and processing.

Hs.535788

Q16637