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中文人类
FBN1 - Fibrillin 1
Alias:
FBN
SGS
WMS
MASS
MFLS
MFS1
OCTD
SSKS
WMS2
ACMICD
ECTOL1
GPHYSD2
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这个基因编码纤丝蛋白家族的一员。编码的前原蛋白在蛋白水解过程中被处理，生成两种蛋白质，包括细胞外基质成分纤丝蛋白-1和蛋白激素降血氨酸。纤丝蛋白-1是一种细胞外基质糖蛋白，作为在整个体内的弹性和非弹性结缔组织中承担力的结构支撑的钙结合微原纤维的结构成分。降血氨酸是由白色脂肪组织分泌的，已被证明可以调节血糖稳态。这个基因的突变与马方综合症和相关MASS表型、晶状体异位症综合征、Weill-Marchesani综合症、Shprintzen-Goldberg综合症和新生儿早老症综合症有关。[由RefSeq，2016年4月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
FBN1 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
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
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
