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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
MAST1 - Microtubule Associated Serine/threonine Kinase 1
Alias:
SAST
MCCCHCM
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因是微管相关丝氨酸/苏氨酸激酶(MAST)家族的一员。这个基因编码的蛋白质具有N-端丝氨酸/苏氨酸激酶结构域,后面跟着突触后密度蛋白-95/discs large/zona occludens-1(PDZ)结构域。在小鼠和大鼠中,正链蛋白质与细胞骨架结合,并通过其PDZ结构域与β2-合成素和神经元一氧化氮合酶(nNOS)结合。在小鼠和大鼠中,这个蛋白质还与中枢神经系统的血管内皮细胞的抗肌营养不良蛋白相关蛋白复合物(DAPC/UAPC)共定位。[RefSeq提供,2017年5月]
Related ID:
NCBI:22983
ENSEMBL:ENSG00000105613
HGNC:19034
UNIPROT:Q9Y2H9
OMIM:612256
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
22983
1
26
36438 bp
170.68
335
1
4
5
MAST1 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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* This data comes from NCBI.
Gene Expression
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Name
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CAS Number
Status
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References Literature
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