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Survival Of Motor Neuron 2, Centromeric (SMN2)

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SMNC; SMNT; SMA2; BCD541; SMA3; SMA4; SMA1; SMA

Survival Of Motor Neuron 2, Centromeric (SMN2)
CCC D498
HGNC 11118
PubMed 12833158
UniProt Q16637
Wiki SMN2
SMN2 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPD498Hu01 Recombinant Survival Of Motor Neuron 2, Centromeric (SMN2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAD498Hu01 Polyclonal Antibody to Survival Of Motor Neuron 2, Centromeric (SMN2) WB,IHC
MAD498Hu21 Monoclonal Antibody to Survival Of Motor Neuron 2, Centromeric (SMN2) WB; IHC; ICC; IP.
Assay Kits SED498Hu ELISA Kit for Survival Of Motor Neuron 2, Centromeric (SMN2) Enzyme-linked immunosorbent assay for Antigen Detection.
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