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survival motor neuron (SMN) gene

duplicated within the 5q13 region; telomeric copy present in 100% of individuals, centromeric copy present in 95.5%. lacking in 213/229 or interrupted in 13/229 SMA patients.

Related

childhood spinal muscular atrophy survival motor neuron protein-1; component of gems 1; Gemin-1 (SMN1, SMN, SMNT, SMN2, SMNC)

General

unclassified gene

Properties

TEMPLATE-FOR: messenger RNA TEMPLATE-FOR: survival motor neuron protein-1 LOCUS: human chromosome-5 Q13 SIZE: entity length = 20 KB MOTIF: transcription factor binding site transcriptional start site exon (8) intron (7) transcriptional termination site

References

  1. Lefebvre S, Burglen L, Reboullet S, Clermont O, Burlet P, Viollet L, Benichou B, Cruaud C, Millasseau P, Zeviani M, et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell. 1995 Jan 13;80(1):155-65. PMID: 7813012