SMN2 (Survival of motor neurone 2)
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Survival of motor neuron 2 (SMN2) is a human specific copy of SMN1 which has a mutation leading to the loss of exon 7 in SMN2 transcripts. The function of SMN2 is not understood as loss is not associated with spinal muscular atrophy, an autosomal recessive neuromuscular disorder that leads to loss and dysfunction of motor neurons. However, higher copy number of SMN2 in conjunction with loss of SMN1 is associated with less severe forms of the disease indicating that SMN2 can supplement some of the SMN1 function. SMN2 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 SMN2 than any other primate, although the significance of these copies is unknown.
Correlation of SMN2, NAIP, p44, H4F5 and Occludin genes copy number with spinal muscular atrophy phenotype in Tunisian patients., , Eur J Paediatr Neurol, 03/2012, Volume 16, Issue 2, p.167-74, (2012)
Detecting gene duplications in the human lineage., , Ann Hum Genet, 2010 Nov, Volume 74, Issue 6, p.555-65, (2010)
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)
Lineage-specific gene duplication and loss in human and great ape evolution., , PLoS Biol, 07/2004, Volume 2, Issue 7, p.E207, (2004)