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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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人类
FBN3 - Fibrillin 3
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码纤原蛋白家族的一员。纤原蛋白是许多结缔组织中的细胞外基质分子,组装成微原纤维。这个基因在胎儿组织中表达最高,其蛋白质产物定位在发育中的骨骼元件、皮肤、肺、肾脏和骨骼肌的细胞外微原纤维上。这个基因可能涉及Weill-Marchesani综合征。[RefSeq,2016年3月提供]
Related ID:
NCBI:84467
ENSEMBL:ENSG00000142449
HGNC:18794
UNIPROT:Q75N90
OMIM:608529
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84467
10
64
84191 bp
300.36
777
--
--
5
FBN3 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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