Thermo Fisher Scientific SMN2 Monoclonal Antibody (2B11-2A9)

Applications and Tested Dilution

Product Specifications

Product Specific Information

Protein Sequence:

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 multiple genes and repetitive elements, making it prone to rearrangements and deletions. The telomeric and centromeric copies of this gene are nearly identical and encode the same protein. Mutations in the telomeric copy are associated with spinal muscular atrophy, while mutations in this centromeric copy do not cause disease.
The critical sequence difference between the two genes is a single nucleotide in exon 7, which functions as an exon splice enhancer. Gene conversion events may lead to varying copy numbers of each gene. The full-length protein localizes to both the cytoplasm and nucleus, specifically in subnuclear bodies called gems near coiled bodies rich in snRNPs. It forms heteromeric complexes with proteins such as SIP1 and GEMIN4 and interacts with proteins involved in snRNP biogenesis, including hnRNP U and small nucleolar RNA binding proteins. 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.