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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
人类
MALRD1 - MAM And LDL Receptor Class A Domain Containing 1
Alias:
DIET1
C10orf112
bA265G8.2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个具有多个MAM(meprin-A5-蛋白酪氨酸磷酸酶μ)和LDLR A2(低密度脂蛋白受体A2)结构域的保守蛋白。这个基因在小肠中的表达丰富,在具有肠上皮细胞特性的人类细胞系分化过程中上调。编码的蛋白已被证明能调节人肠细胞系中FGF19的生成,并可能调节肝脏中的胆汁酸代谢。这个基因的一个等位基因与APOE E4等位基因之间的协同相互作用与阿尔茨海默病患者风险增加有关。[RefSeq,2017年7月提供]
Related ID:
NCBI:340895
ENSEMBL:ENSG00000204740
HGNC:24331
UNIPROT:Q5VYJ5
OMIM:617715
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
340895
11
40
687552 bp
241.01
10
--
6
2
MALRD1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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