- accession:NM_206926
- 基因别名:SEPN1
- 基因描述:Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:1671
- 翻译后氨基酸长度:556
- TranscriptVariant:This variant (2) represents the predominant transcript and is lacking an in-frame coding exon compared to transcript variant 1. The resulting shorter isoform (2) is thus missing an internal protein segment containing an additional selenocysteine residue compared to isoform 1.
- 基因简介: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]
- 规格:10ul 质粒
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