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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
Tafazzin - tafazzin, phospholipid-lysophospholipid transacylase
Alias:
Taz
G4.5
5031411C02Rik
9130012G04Rik
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Basic Information
Sequence Homology
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
References Literature
这个基因编码一种线粒体磷脂-溶血磷脂转酰基酶,对于心肌脂的正常组成和内容是必需的。在人类中,这个基因的突变导致巴特综合征,通常以心肌肌病、中性粒细胞减少和异常线粒体为特征。这个基因与编码具有PDZ结合基序的转录协同激活因子的基因是不同的。这两个基因共享基因符号Taz。已经描述了编码不同异型体的多种转录变异体。[RefSeq,2010年3月提供]
Related ID:
NCBI:66826
ENSEMBL:ENSMUSG00000009995
UNIPROT:Q91WF0
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Related Mouse Models
Reference
66826
19
10
14685 bp
30.33
5
13
Tafazzin Genetics information (+)
GRCm39
Sequence Homology
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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