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- accession：NM_001130702
- 基因别名：BSCL2
- 基因描述：Homo sapiens Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3, mRNA.
- 载体：现货载体
- CDS区长度：864
- 翻译后氨基酸长度：287
- TranscriptVariant：This variant (3) has multiple differences, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.
- 基因简介：This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2).[provided by RefSeq, Mar 2011]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
