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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
Hps5 - HPS5, biogenesis of lysosomal organelles complex 2 subunit 2
Alias:
hz
mr
ru2
haze
ru-2
maroon
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
凝血作用的上游或内部;细胞器组织;色素沉着。预测位于细胞质中。预测是BLOC-2复合物的一部分。用于研究Hermansky-Pudlak综合症5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5有关。与人类的HPS5(HPS5生物发生溶酶体器官复合物2亚基2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:246694
ENSEMBL:ENSMUSG00000014418
UNIPROT:P59438
Basic Information
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Length
MW (kDa)
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246694
10
23
35612 bp
126.34
15
5
Hps5 Genetics information (-)
GRCm39
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* This data comes from NCBI.
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