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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
大鼠
Bloc1s5 - biogenesis of lysosomal organelles complex 1 subunit 5
Alias:
Muted
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
参与几个过程,包括内质网到黑色素体的运输;建立囊泡定位;以及色素细胞分化的正向调节。预测在发育色素沉着、耳石形态发生和囊泡介导的运输的上游或内部发挥作用。预测位于运输囊泡中。预测是BLOC-1复合物的一部分。这个基因的人类同源物与Hermansky-Pudlak综合症有关。与人类BLOC1S5(溶酶体有机体生物发生复合物1亚基5)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:306868
ENSEMBL:ENSRNOG00000016497
UNIPROT:B2GV52
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
306868
2
5
25312 bp
21.54
6
2
Bloc1s5 Genetics information (+)
mRatBN7.2
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
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