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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
Mmachc - methylmalonic aciduria cblC type, with homocystinuria
Alias:
CblC
1810037K07Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
预测能够实现几个功能,包括阴离子结合活性;氰钴胺还原酶(氰化物消除)活性;和蛋白质同二聚体化活性。预测参与钴胺素代谢过程;脱甲基化;和谷胱甘肽代谢过程。位于线粒体中。在几个结构中表达,包括胚胎外胚层;肠道;心脏;肺;和肾盂间质。用于研究甲基丙二酸尿症和同型半胱氨酸尿症cblC型。这个基因的人类同源物与甲基丙二酸尿症和同型半胱氨酸尿症cblC型有关。与人类MMACH(钴胺素相关C的代谢)的正交物相似。[由基因组资源联盟,2022年4月提供]
Related ID:
NCBI:67096
ENSEMBL:ENSMUSG00000028690
UNIPROT:Q9CZD0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
67096
1
4
5952 bp
31.65
9
4
Mmachc 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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Type
Name
MGI
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