SMN1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** 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 neuron protein, is involved in the modulation of spliceosome assembly. Mutation of the gene is associated with spinal muscular atrophy types 1 through 4.

**Synonyms:** - BCD541 - GEMIN1 - SMA - SMA1 - SMA2 - SMA3 - SMA4 - SMN - SMNT - Spinal Muscular Atrophy (Werdnig-Hoffmann Disease, Kugelberg-Welander Disease) Gene - Survival Motor Neuron 1 Protein Gene - Survival of Motor Neuron 1 Gene - Survival of Motor Neuron 1, Telomeric wt Allele - Survival of Motor Neuron, Telomeric Copy Gene - T-BCD541 - TDRD16A - Tudor Domain Containing 16A Gene