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中文人类
PNPLA6 - Patatin Like Phospholipase Domain Containing 6
Alias:
NTE
sws
BNHS
LNMS
OMCS
SPG39
NTEMND
iPLA2delta
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这个基因编码一种磷酸脂酶，可以脱去细胞内磷脂酰胆碱的乙酰基，生成甘油磷酸胆碱。它被认为在神经元分化的过程中，在神经突生长和过程延长中起作用。该蛋白在神经元和非神经元细胞的内质网胞质面锚定。这个基因的突变导致常染色体隐性痉挛性截瘫，该蛋白是有机磷酸化合物和化学战剂诱导神经退行性变的靶标。已经在这个基因中发现了编码不同异型体的多种转录变异体。[RefSeq,2009年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PNPLA6 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
