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 des

Survival motor neuron protein,SMN1;SMN;SMNT;SMN2;SMNC;Survival motor neuron protein;Component of gems 1;Gemin-1,SMN1

Q16637,P97801

Human,Mouse,Rat

WB,IHC,IF,ICC,IP,ELISA

WB 1:1000-1:5000
IHC 1:200-1:500
IF 1:200-1:1000
ICC 1:200-1:1000
IP 1:50-1:200
ELISA 1:5000-1:20000

38kDa

Nucleus, gem . Nucleus, Cajal body . Cytoplasm . Cytoplasmic granule . Perikaryon . Cell projection, neuron projection . Cell projection, axon . Cytoplasm, myofibril, sarcomere, Z line . Colocalizes with actin and at the Z-line of skeletal muscle (By similarity). Under stress conditions colocalizes with RPP20/POP7 in punctuated cytoplasmic granules (PubMed:14715275). Colocalized and redistributed with ZPR1 from the cytoplasm to nuclear gems (Gemini of coiled bodies) and Cajal bodies (PubMed:11283611). Colocalizes with FMR1 in cytoplasmic granules in the soma and neurite cell processes (PubMed:18093976). .

Rabbit

Monoclonal

IgG,Kappa

PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA

-20°C/1 year(Do not lower than -25°C)