C205072Level 4
SELENON wt Allele
**Semantic type:** Gene or Genome
**Definition:** Human SELENON wild-type allele is located in the vicinity of 1p36.11 and is approximately 18 kb in length. This allele, which encodes selenoprotein N, is involved in calcium homeostasis, ryanodine receptor (RyR) activity and the cellular response to oxidative stress. Mutations in the gene are associated with rigid spine muscular dystrophy 1.
**Synonyms:** - CFTD - CMYP3 - MDRS1 - RSMD1 - RSS - Rigid Spine Muscular Dystrophy 1 Gene - SELN - SEPN1 - Selenoprotein N wt Allele - Selenoprotein N, 1 Gene
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