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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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中文
小鼠
Fbn1 - fibrillin 1
Alias:
Tsk
Fib-1
B430209H23
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Description
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
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加工成两种蛋白质,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,已被证明能调节血糖稳态。这个基因的纯合敲除小鼠表现出主动脉发育受损和出生后早期死亡,这被归因于纤丝蛋白-1蛋白的缺乏。具有这个基因的弱表型等位基因的小鼠表现出血糖稳态受损,可能是由于血清降血氨酸水平的降低。[由RefSeq,2016年4月提供]
Related ID:
NCBI:14118
ENSEMBL:ENSMUSG00000027204
UNIPROT:Q61554
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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14118
3
66
205904 bp
312.30
19
15
Fbn1 Genetics information (-)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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