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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
Ap3d1 - adaptor-related protein complex 3, delta 1 subunit
Alias:
mh
Ap3d
Bolvr
mocha
mBLVR1
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
参与前向突触囊泡运输;神经递质受体运输,从突触后内质网到溶酶体;以及突触囊泡从内质网芽生。在几个过程的上游或内部发挥作用,包括抗原加工和呈递,外来脂质抗原通过MHC类Ib;正调节NK T细胞分化;以及突触囊泡膜组织。位于内质网;突触后;和终端突触球。在谷氨酸能突触和突触前活跃。在中枢神经系统和视网膜中表达。用于研究Hermansky-Pudlak综合征1;Hermansky-Pudlak综合征2;和血小板储存池缺陷。这个基因的人类同源物与Hermansky-Pudlak综合征有关。与人类的AP3D1(适配器相关蛋白复合物3亚基δ1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:11776
ENSEMBL:ENSMUSG00000020198
UNIPROT:O54774
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
11776
3
31
35348 bp
135.08
7
9
Ap3d1 Genetics information (-)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
MGI
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