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 ?
By combining allele-specific PCR with duplex amplification using restricted dNTPs, the copy numbers of SMN1 and SMN2 were clearly identified (Fig.
Medicamentos como riluzole (que actua inhibiendo receptores de glutamato), gabapentina y, principalmente, inhibidores de la histona deacetilasa pueden aumentar la production del SMN2 asi como de las proteinas, histonas y factores de transcription; (29-31) otros medicamentos con este efecto son hidroxiurea y acido valproico.
8220;We are very grateful to Families of SMA for funding our ASO project as we hope we can continue to develop therapeutics that target an additional genetic element within SMN2.
Singh has discovered a way of using SMN2 to produce the working SMN protein.
The telomeric SMN1 gene is highly homologous to the centromeric SMN2 (survival motor neuron 2, centromeric) gene.
Patients lacking a functional SMN1 gene survive only because humans carry a second gene called SMN2 which produces low levels of SMN protein.
The researchers are using a mild SMA mouse that carries the human SMN2 gene and is also inducible.
SMN1 and SMN2 differ by 5 bases, including a single coding base in exon 7 (840 C>T) that does not alter the amino acid codon (6, 9, 10).
Today the journal Science published results of a preclinical study demonstrating that treatment with orally available RNA splicing modifiers of the SMN2 gene starting early after birth is preventing deficits in a mouse model of Spinal Muscular Atrophy (SMA).
Mother nature has provided back-up copies of the deleted or mutated gene called SMN2.
Quantitative analysis of SMN1 and SMN2 genes based on DHPLC: a highly efficient and reliable carrier-screening test.