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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
人类
BICD1 - BICD Cargo Adaptor 1
Alias:
BICD
bic-D 1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于动力蛋白货载适配器双尾鱼D家族的适配蛋白。编码的蛋白质作为调节微管基质上将货载加载到动力蛋白马达复合物上的细胞内货载运输辅助因子。它还可以控制动力蛋白马达活性和协调。它具有由N-和C-末端的高度保守的螺旋卷域组成的结构域架构,其他家庭成员具有相同的架构。这个基因中自然发生的突变与短端粒长度和肺气肿有关。[RefSeq,2017年8月提供]
Related ID:
NCBI:636
ENSEMBL:ENSG00000151746
HGNC:1049
UNIPROT:Q96G01
OMIM:602204
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
636
37
10
276787 bp
110.75
29
--
5
8
BICD1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Transcripts & Proteins
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Transcript
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Protein
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* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
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Type
Name
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Mutations
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Status
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Link
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References Literature
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No Data Found!
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