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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
MYL12A - Myosin Light Chain 12A
Alias:
MLCB
MRCL3
MRLC3
MYL2B
MLC-2B
HEL-S-24
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一种非肌肿瘤肌球蛋白调节轻链。这种蛋白质通过磷酸化激活,并调节平滑肌和非肌细胞收缩。这种蛋白质还可能通过隔离作为p53驱动的凋亡抑制子的转录调节子凋亡拮抗转录因子(AATF)/Che-1来参与DNA损伤修复,后者作为p53驱动的凋亡的抑制子发挥作用。交替剪接导致多个转录变异体。这个基因的一个假基因位于染色体8上。[由RefSeq,2014年12月提供]
Related ID:
NCBI:10627
ENSEMBL:ENSG00000101608
HGNC:16701
UNIPROT:P19105
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10627
5
4
8756 bp
19.78
4
--
1
14
MYL12A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
Gene Expression
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No Data Found!
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