Symbol: Name: ID: |
SEPN1 selenoprotein N, 1 GFS:5129 |
Gene name: | SEPN1 |
Chromosome: | 1p36.13 |
Previous Symbols: | RSMD1, MDRS1 |
Previous Names: | rigid spine muscular dystrophy 1 |
Aliases: | selN, RSS |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2151208 | Rat Genome Database ID: | |
HGNC ID: | HGNC:15999 | RefSeq IDs: | NM_020451 |
Entrez Gene ID: | 57190 | Ensembl Gene ID: | ENSG00000162430 |
VEGA IDs: | OTTHUMG00000007375 | UniProt ID: | Q9NZV5 |
UCSC ID: | uc010oes.1 | OMIM ID: | 606210 |
Pubmed: | PMID10608886 | ||
CCDS IDs: | CCDSCCDS41282.1 CCDS CCDS41283.1 |
This gene encodes a selenoprotein, which contains a selenocysteine (Sec) residue at its active site. The selenocysteine is encoded by the UGA codon that normally signals translation termination. The 3' UTR of selenoprotein genes have a common stem-loop structure, the sec insertion sequence (SECIS), that is necessary for the recognition of UGA as a Sec codon rather than as a stop signal. Mutations in this gene cause the classical phenotype of multiminicore disease and congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008].
Products for SEPN1 gene
Catalog | Product Name | Application | Company |
GFS:E05129 | selenoprotein N, 1; ELISA kit | ELISA | n/a |
GFS:A05129 | selenoprotein N, 1; Anti | ANTIBODIES | n/a |
GFS:P05129 | selenoprotein N, 1; Protien | Protien | n/a |