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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
Lmbrd1 - LMBR1 domain containing 1
Alias:
LMBD1
0910001K20Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
激活AP-2适配器复合物结合活性;氯囊重链结合活性;和胰岛素受体结合活性。参与氯囊依赖性内吞作用和胚瘤形成。在胰岛素受体内化;葡萄糖导入的负调控;和信号传导的负调控中起到上游或内部作用。位于氯囊包被的内吞囊泡;溶酶体;和质膜上。在胚胎;胚外成分;神经褶;和原条中表达。该基因的人类同源物涉及甲基丙二酸尿症和同型胱氨酸尿症cblF型。与人类LMBRD1(含LMBR1结构域1)正交。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:68421
ENSEMBL:ENSMUSG00000073725
UNIPROT:Q8K0B2
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
68421
4
16
89310 bp
61.06
7
6
Lmbrd1 Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
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* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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