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SMN1 wt Allele

Known as: SMNT, Survival Motor Neuron 1 Protein Gene, Survival of Motor Neuron, Telomeric Copy Gene 
Human SMN1 wild-type allele is located in the vicinity of 5q13.2 and is approximately 29 kb in length. This allele, which encodes survival motor… 
National Institutes of Health

Related topics

Related topics

4 relations
Muscular Atrophy, Spinal, Type IIRNA Splicingprotein protein interaction

Broader (1)

SMN1 gene

Papers overview

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Highly Cited
2007
Highly Cited
2007
Mutations in LACS2, a Long-Chain Acyl-Coenzyme A Synthetase, Enhance Susceptibility to Avirulent Pseudomonas syringae But Confer Resistance to Botrytis cinerea in Arabidopsis1[OA]
We identified an Arabidopsis (Arabidopsis thaliana) mutant, sma4 (symptoms to multiple avr genotypes4), that displays severe… 
2004
2004
Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells
Spinal muscular atrophy (SMA) is a recessive disorder involving the loss of motor neurons from the spinal cord. Homozygous… 
Highly Cited
1999
Highly Cited
1999
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.
To the Editor: Diaphragmatic spinal muscular atrophy (SMA) has been delineated as a variant of infantile SMA (SMA1 [MIM 253300… 
Highly Cited
1998
Highly Cited
1998
Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
Childhood-onset autosomal recessive spinal muscular atrophy (SMA) is associated with absence of the telomeric survival motor… 
Highly Cited
1998
Highly Cited
1998
Association between centromeric deletions of the SMN gene and sporadic adult‐onset lower motor neuron disease
The telomeric copy (t) of the survival motor neuron (SMN) gene is homozygously deleted in more than 90% of patients with… 
Highly Cited
1997
Highly Cited
1997
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.
The survival motor neuron (SMN) transcript is encoded by two genes, SMNT and SMNC. The autosomal recessive proximal spinal… 
Highly Cited
1997
Highly Cited
1997
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions.
The childhood-onset spinal muscular atrophies are a clinically heterogeneous group of autosomal recessive disorders characterized… 
Highly Cited
1997
Highly Cited
1997
Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7
ABSTRACTThe telomeric survival motor neuron (SMNT gene is a valuable molecular diagnostic tool for childhood-onset spinal… 
Highly Cited
1996
Highly Cited
1996
An 11 base pair duplication in exon 6 of the SMN gene produces a type I spinal muscular atrophy (SMA) phenotype: further evidence for SMN as the primary SMA-determining gene.
The gene for autosomal recessive spinal muscular atrophy (SMA) has been mapped to 5q12 in a region that contains repeated markers… 
Highly Cited
1996
Highly Cited
1996
Characterization of survival motor neuron (SMNT) gene deletions in asymptomatic carriers of spinal muscular atrophy.
Previous reports have established that the telomeric copy of the survival motor neuron (SMNT) gene and the intact copy of the… 
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