SMN1

(redirected from survival motor neuron protein)

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 ?
Nusinersen is an approved anti-sense oligonucleotide therapy for SMA that increases production of Survival Motor Neuron protein. SMN-C1 is a small molecule therapy that increases SMN protein expression, similar to risdiplam, an investigational treatment in development for SMA.
SPINRAZA is an antisense oligonucleotide (ASO) that targets the underlying cause of the disease in order to increase production of full-length survival motor neuron protein.
SMA is caused by mutations in the survival motor neuron (SMN) 1 gene, which codes for survival motor neuron protein. This leads to loss of function.
Due to a loss of, or defect in the SMN1 gene, people with SMA do not produce enough survival motor neuron protein, which is critical for the maintenance of motor neurons.
McAndrew et al., "The survival motor neuron protein in spinal muscular atrophy," Human Molecular Genetics, vol.

Full browser ?