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 ?
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.
The disease results when due to a missing gene, motor neurons - nerve cells that send signals from the spinal cord to muscles - produce too little of what is called survival motor neuron protein.

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