SMN2


Also found in: Acronyms.

SMN2

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 low amount of full-length transcripts that encode for a protein identical to SMN1.
References in periodicals archive ?
The investigational compounds used in this study represent the first orally available SMN2 splicing modifiers for SMA, commented Stuart W.
We designed primers to amplify the SMN1 and SMN2 genes by using sequence NC 000005.
However, SMN2 doesn't produce normal protein because of the presence of a specific intronic sequence in the gene or DNA.
In essence, the best way to increase SMN protein from SMN2 remains a critical issue, and this will be investigated in this new project,” stated Arthur Burghes Ph.
In all affected and carrier samples, SMN1 and SMN2 gene copy numbers were independently determined using a previously published quantitative PCR (21).
RG7800 is an orally available small molecule being investigated for its ability to selectively modify the alternative splicing of the SMN2 gene, which is present both in healthy individuals and SMA patients, towards the production of full length mRNA.
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
Rx] is designed to alter the splicing of SMN2, a gene that is closely related to SMN1, to increase production of fully functional SMN protein.
Mother nature has provided back-up copies of the deleted or mutated gene called SMN2.
The SMA-determining gene group, SMN, is located in a complex region of chromosome 5813 and includes 2 highly homologous genes, telomeric SMN1 (MlM# 600354) and centromeric SMN2 (MlM# 601627).
Patients lacking a functional SMN1 gene survive only because humans carry a second gene, known as SMN2 which produces low levels of SMN protein.
Quantitative analysis of SMN1 and SMN2 based on real-time LightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.