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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
Hps3 - HPS3, biogenesis of lysosomal organelles complex 2 subunit 1
Alias:
coa
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
细胞器组织和色素沉着的上游作用。位于细胞质中。用于研究Hermansky-Pudlak综合症3和血小板储存池缺陷。这个基因的人类同源物与Hermansky-Pudlak综合症和Hermansky-Pudlak综合症3有关。与人类HPS3(HPS3生物发生溶酶体器官复合物2亚基1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:12807
ENSEMBL:ENSMUSG00000027615
UNIPROT:Q91VB4
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
12807
13
17
39370 bp
113.18
13
10
Hps3 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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