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中文人类
BSCL2 - BSCL2 Lipid Droplet Biogenesis Associated, Seipin
Alias:
HMN5
PELD
HMN5C
SPG17
GNG3LG
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这个基因编码多跨膜蛋白seipin蛋白。这种蛋白定位在内质网，可能对脂质滴形态很重要。这个基因的突变与先天性全身性脂肪营养不良2型或Berardinelli-Seip综合征有关，这是一种罕见的常染色体隐性疾病，其特点是脂肪组织几乎不存在和严重的胰岛素抵抗。已经发现这个基因的不同剪接转录变异体编码不同的异构体。自然发生的直通转录发生在这个基因座和相邻基因座HNRNPUL2（异质核核糖核酸蛋白质U样2）之间。[RefSeq提供，2011年3月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
BSCL2 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
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Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
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Target
Residues
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Score
Related Mouse Models
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Name
MGI
Strain of Origin
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Phase
Link
References Literature
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Year
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