SMA4 Rabbit anti-Human, Polyclonal, Proteintech

Description

• This gene 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
• Multiple transcript variants encoding distinct isoforms have been described.