Thermo Fisher Scientific SMN2 Polyclonal Antibody

Thermo Fisher Scientific SMN2 Polyclonal Antibody

Applications and Tested Dilution

Product Specifications

Product Specific Information

Positive test controls include: MCF7, HepG2, HeLa, 293T, SH-SY5Y, Mouse brain.
Target localization: Cajal body, Cytoplasm, Cytoplasmic granule, Nucleus, Z line, gem, myofibril, sarcomere.

Immunogen sequence:
MAMSSGGSGG GVPEQEDSVL FRRGTGQSDD SDIWDDTALI KAYDKAVASF KHALKNGDIC ETSGKPKTTP KRKPAKKNKS QKKNTAASLQ QWKVGDKCSA IWSEDGCIYP ATIASIDFKR ETCVVVYTGY GNREEQNLSD LLSPICEVAN NIEQNAQENE NESQVSTDES ENSRSPGNKS DNIKPKSAPW NSFLPPP

Target Information

This gene is part of a 500 kb inverted duplication on chromosome 5q13, containing multiple genes and repetitive elements prone to rearrangements and deletions.
The telomeric and centromeric copies are nearly identical and encode the same protein. Mutations in the telomeric copy are associated with spinal muscular atrophy, while mutations in the centromeric copy do not lead to disease.
The critical sequence difference between the two copies is a single nucleotide in exon 7, acting as an exon splice enhancer.
The full-length protein localizes to both cytoplasm and nucleus, particularly in subnuclear bodies called gems near coiled bodies rich in snRNPs.
This protein forms complexes with SIP1 and GEMIN4, and interacts with 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.