SMN1 (Survival of motor neurone 1)
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Survival of motor neuron 1 (SMN1) is involved in the assembly of small nuclear ribonucleoproteins (snRNPs), which are important for pre-mRNA splicing. SMN1 loss is associated with spinal muscular atrophy, an autosomal recessive neuromuscular disorder that leads to loss and dysfunction of motor neurons. SMN1 copies are found within a 500kb 15q13 inverted duplication region that is highly prone to rearrangements and deletions. Humans have 1-3 more copies of SMN1 than any other primate, although the significance of these copies is unknown.
Diversity of human copy number variation and multicopy genes., , Science, 10/2010, Volume 330, Issue 6004, p.641-6, (2010)
A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy., , Acta Paediatr, 05/2009, Volume 98, Issue 5, p.865-72, (2009)
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?, , Nat Rev Neurosci, 2009 Aug, Volume 10, Issue 8, p.597-609, (2009)
Lineage-specific gene duplication and loss in human and great ape evolution., , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)