One of several spinal muscular atrophies associated with defects in the human gene SMN1 and/or SMN2. See human disease model report for spinal muscular atrophy, SMN-related (FBhh0000352).
Variants specifically implicated in SMA3 have been tested in flies. Variant(s) implicated in human disease tested (as analogous mutation in fly gene): D20V in the fly Smn gene (corresponds to D44V in the human SMN1 gene, implicated in SMA3); G73R in the fly Smn gene (corresponds to G95R in the human SMN1 gene, implicated in SMA3); Y107C in the fly Smn gene (corresponds to Y130C in the human SMN1 gene, implicated in SMA3); T205I in the fly Smn gene (corresponds to T274I in the human SMN1 gene, implicated in SMA2 and SMA3); G201C in the fly Smn gene (corresponds to G279C in the human SMN1 gene, implicated in SMA2 and SMA3); Y203C in the fly Smn gene (corresponds to Y272C in the human SMN1 gene, implicated in multiple SMA subtypes); G210V in the fly Smn gene (corresponds to G279V in the human SMN1 gene, implicated in multiple SMA subtypes).
[updated Jul. 2017 by FlyBase; FBrf0222196]
Spinal muscular atrophy (SMA) is characterized by progressive muscle weakness resulting from degeneration and loss of the anterior horn cells (i.e., lower motor neurons) in the spinal cord and the brain stem nuclei. Onset ranges from before birth to adolescence or young adulthood. Poor weight gain, sleep difficulties, pneumonia, scoliosis, and joint contractures are common complications. [From GeneReviews, Spinal Muscular Atrophy, pubmed:20301526 2016.07.11]
[SPINAL MUSCULAR ATROPHY, TYPE III; SMA3](https://omim.org/entry/253400)
[SURVIVAL OF MOTOR NEURON 2; SMN2](https://omim.org/entry/601627)
[SURVIVAL OF MOTOR NEURON 1; SMN1](https://omim.org/entry/600354)
Many to one: 2 human to 1 Drosophila.
Ortholog of human SMN and SMN2 (1 Drosophila to 1 human). Dmel\Smn shares 26% identity and 42% similarity with human SMN1 and 26% identity and 42% similarity with human SMN2.