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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
DYNLL1 - Dynein Light Chain LC8-type 1
Alias:
LC8
PIN
DLC1
DLC8
LC8a
DNCL1
hdlc1
DNCLC1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
细胞质动力蛋白是大分子量的酶复合物,分子质量约为1,200 kD。它们包含两个主要来自动力蛋白重链形成的力产生头部,以及将头部连接到基本结构域的柄,该基本结构域包含不同数量的辅助中间链。该复合物涉及细胞内运输和活力。本记录中描述的蛋白质是轻链,作为该复合物的一部分存在,但还与神经元一氧化氮合酶物理相互作用并抑制其活性。这种蛋白质的结合破坏了神经元一氧化氮合酶的二聚体,这是活性所必需的构象,并通过其对一氧化氮合酶活性的影响,它可以调节许多生物过程。已表征了替代转录剪接变体。[由RefSeq,2008年7月提供]
Related ID:
NCBI:8655
ENSEMBL:ENSG00000088986
HGNC:15476
UNIPROT:P63167
OMIM:601562
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
8655
3
3
28652 bp
10.37
--
--
4
29
DYNLL1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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