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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
Hps4 - HPS4, biogenesis of lysosomal organelles complex 3 subunit 2
Alias:
le
BLOC-3
mKIAA1667
2010205O06Rik
C130020P05Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活小GTP酶结合活性。在凝血、黑色素细胞分化和细胞器组织中起上游或内部作用。位于细胞质囊泡中。在中肠和中肠循环中表达。用于研究Hermansky-Pudlak综合症4和血小板储存池缺陷。该基因的人类同源物与Hermansky-Pudlak综合症、Hermansky-Pudlak综合症4和精神分裂症有关。与人类HPS4(HPS4生物发生溶酶体细胞器复合物3亚基2)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:192232
ENSEMBL:ENSMUSG00000042328
UNIPROT:Q99KG7
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
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192232
6
14
35442 bp
72.66
4
5
Hps4 Genetics information (+)
GRCm39
Sequence Homology
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* This data comes from NCBI.
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