SELENON wt Allele

Preferred Label : SELENON wt Allele;

NCIt synonyms : RSS; CMYP3; CFTD; SELN; MDRS1; RSMD1; Selenoprotein N, 1 Gene; SEPN1; Rigid Spine Muscular Dystrophy 1 Gene; Selenoprotein N wt Allele;

NCIt 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.;

NCIt note : The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the selenocysteine (Sec) insertion sequence (SECIS) element, which is necessary for the recognition of UGA codons as Sec codons rather than stop signals. Additionally, the SELENON gene contains a second stop-codon redefinition element (SRE) adjacent to the UGA codon. (EntrezGene);

NCI Metathesaurus CUI : CL1927134;

GenBank Accession Number : AF166125;

Details

Origin ID

C205072;

OMIM relation
- Selenoprotein n [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p36.11 [NCIt concept]
gene_plays_role_in_process
- Calcium Binding [NCIt concept]
- Calcium Homeostasis [NCIt concept]
- Myogenesis [NCIt concept]
- Positive Regulation of Oxidative Stress Process [NCIt concept]

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