SMN1


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SMN1

A gene on chromosome 5q13.2 that encodes a survival motor neuron protein which is a component of an import snRNP complex composed of KPNB1, RNUT1 and ZNF259. It interacts with OSTF1, LSM10 and LSM11.

Molecular pathology
Defects of SMN1 cause spinal muscular atrophy types 1–4. The severity of disease is mainly determined by the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only a low amount of full-length transcripts that encode for a protein identical to SMN1.
References in periodicals archive ?
Duplex PCR was used to quantify chromosomes X, 13, 18, 21, and the genes EGFR, SMN1, and SMN2 against reference PCR products.
9) El diagnostico se confirma con el estudio cromosomico, evidenciando la ausencia del exon 7 del gen SMN1, lo que se loga en el 95 % de los casos, o supresion del gen XS2G3 NAIP en el 45% de los casos.
Experts differ on how many people silently carry mutated SMN1 genes, but some say that as many as 1 in 40 people might be carriers.
Such early detection would be possible in about 95% of SMA cases by screening newborn dried blood spots (DBS) for the homozygous absence of SMN1 sequences around exon 7 (7, 8).
There is a gene already in humans that looks very much like SMN1, so much so that it's called SMN2.
Spinraza is an antisense oligonucleotide, using Ionis Pharmaceuticals' proprietary antisense technology, that is designed to treat SMA caused by mutations or deletions in the SMN1 gene located in chromosome 5q that leads to SMN protein deficiency.
DNA samples previously characterized for SMN1 and SMN2 copy numbers (homozygous SMN1 deletion, SMN1 deletion carriers, and normal with variant SMN1 and SMN2 copy numbers) were used as controls.
Because of the alternative splicing, SMN2 does not compensate for the homozygous loss of SMN1.
SMA is an inherited neurodegenerative disease in which a defect in the SMN1 ("survival motor neuron") gene results in low levels of the protein SMN and leads to progressive damage to motor neurons, loss of muscle function and, in many patients, early death.
SMA is caused by a missing or defective SMN1 gene, which results in reduced levels of the survival motor neuron (SMN) protein tahst plays a critical role in the survival of neuronal cells in the spinal cord responsible for muscle movements.
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.
Patients lacking a functional SMN1 gene survive only because humans carry a second gene called SMN2 which produces low levels of SMN protein.