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中文人类
AGPAT2 - 1-acylglycerol-3-phosphate O-acyltransferase 2
Alias:
BSCL
BSCL1
LPAAB
LPLAT2
1-AGPAT2
LPAAT-beta
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这个基因编码1-酰基甘油-3-磷酸O-酰基转移酶家族的一员。该蛋白位于内质网膜内，将溶血磷脂酸转化为磷脂酸，这是新生磷脂生物合成的第二步。这个基因的突变与先天性全身性脂肪营养不良（CGL）或Berardinelli-Seip综合征有关，这是一种以脂肪组织几乎消失和严重胰岛素抵抗为特征的疾病。已表征了编码不同异型体的替代转录剪接变异体。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
AGPAT2 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
