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中文人类
TAFAZZIN - Tafazzin, Phospholipid-lysophospholipid Transacylase
Alias:
EFE
TAZ
BTHS
EFE2
G4.5
Taz1
CMD3A
LVNCX
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这个基因编码的蛋白质在心脏和骨骼肌中表达水平很高。这个基因的突变与许多临床病症有关，包括巴特综合征、扩张性心肌病（DCM）、肥厚性DCM、心内膜弹性纤维症和左心室非紧凑（LVNC）。已经描述了多种编码不同异型体的转录变异体。这些异型体的长形式和短形式都产生了；短形式缺乏疏水前导序列，可能作为细胞质蛋白存在而不是膜结合。已经描述了其他可选的剪接转录本，但所有这些转录本的全长度尚未可知。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
TAFAZZIN Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
