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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
Hps6 - HPS6, biogenesis of lysosomal organelles complex 2 subunit 3
Alias:
ru
BLOC2
5330434M19Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够激活GTP依赖的蛋白质结合活性和小GTP酶结合活性。参与脂质体内平衡;溶酶体定位;和蛋白质分泌。在血液凝固;黑色素细胞分化;和细胞器组织中起上游或内部作用。预测位于几个细胞组件中,包括内质网;内体;和溶酶体。预测是BLOC-2复合物的一部分。预测在溶酶膜上是活跃的。用于研究Hermansky-Pudlak综合症6。这个基因的人类同源物与Hermansky-Pudlak综合症和Hermansky-Pudlak综合症6有关。与人类HPS6(HPS6生物发生溶酶体细胞器复合物2亚基3)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:20170
ENSEMBL:ENSMUSG00000074811
UNIPROT:Q8BLY7
Basic Information
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Transcripts
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Length
MW (kDa)
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Reference
20170
1
1
2696 bp
87.34
12
6
Hps6 Genetics information (+)
GRCm39
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* This data comes from NCBI.
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