Thermo Fisher Scientific SMN2 Monoclonal Antibody (1A3-2B9)

Applications

Product Specifications

Product Specific Information

Sequence of this protein is as follows:
MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA IWSEDGCIYP ATIASIDFKR ETCVVVYTGY GNREEQNLSD LLSPICEVAN NIEQNAQENE NESQVSTDES ENSRSPGNKS DNIKPKSAPW NSFLPPPPPM PGPRLGPGKP GLKFNGPPPP PPPPPPHLLS CWLPPFPSGP PIIPPPPPIC PDSLDDADAL GSMLISWYMS GYHTGYYMEM LA

Target Information

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. While mutations in the telomeric copy are associated with spinal muscular atrophy, mutations in this gene, the centromeric copy, do not lead to disease. This gene 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. The nine exons of both copies are designated historically as exon 1, 2a, 2b, and 3–8. Gene conversion events may involve the two genes, leading to varying copy numbers.

The full-length protein encoded by this gene localizes to both the cytoplasm and the nucleus. Within the nucleus, it localizes to subnuclear bodies called gems found near coiled bodies containing high concentrations of small ribonucleoproteins (snRNPs). This protein forms heteromeric complexes with proteins such as SIP1 and GEMIN4, and interacts with several proteins involved in snRNP biogenesis, such as hnRNP U and small nucleolar RNA binding protein. Four transcript variants encoding distinct isoforms have been described.

For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.

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