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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
Ap3b1 - adaptor-related protein complex 3, beta 1 subunit
Alias:
pe
AP-3
Hps2
rim2
pearl
beta3A
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够使GTP依赖的蛋白质结合活性和蛋白质磷酸酶结合活性。参与向前突触囊泡运输和从内质网囊泡的突触囊泡萌发。在RNA聚合酶II的mRNA转录和催化活性的调节中具有上游或内部负作用。在几个过程的上游或内部,包括动物器官发育;蛋白质定位到细胞器的建立;和囊泡组织。预测位于高尔基网络中。预测是AP-3适配器复合物和clathrin适配器复合物的一部分。用于研究Hermansky-Pudlak综合症2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、Hermansky-Pudlak综合症2、间质性肺病、中性粒细胞减少和肺纤维化有关。与人类的AP3B1(适配器相关蛋白复合物3亚基β1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:11774
ENSEMBL:ENSMUSG00000021686
UNIPROT:Q9Z1T1
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11774
4
27
210507 bp
122.74
22
15
Ap3b1 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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