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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
Dysf - dysferlin
Alias:
D6Pas3
2310004N10Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
具有α-tubulin结合活性和微管结合活性。参与囊泡融合。在几个过程的上游或内部发挥作用,包括与免疫应答相关的髓样细胞激活;大分子代谢过程的负调控;和质膜组织。位于几个细胞组件中,包括T-tubule;膜下质;和微管。在心室表达。用于研究常染色体隐性肢带肌营养不良2B型和远端肌病。此基因的人类同源物涉及宫泽肌营养不良1;常染色体隐性肢带肌营养不良2B型;前胫骨起病的远端肌病;和肌营养不良。与人类DYSF(dysferlin)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:26903
ENSEMBL:ENSMUSG00000033788
UNIPROT:Q9ESD7
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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Reference
26903
26
56
202699 bp
237.91
8
13
Dysf Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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