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中文人类
PPT1 - Palmitoyl-protein Thioesterase 1
Alias:
PPT
CLN1
INCL
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这个基因编码的蛋白质是一种小糖蛋白，参与在溶酶体降解过程中脂质修饰蛋白质的分解。编码的酶从半胱氨酸残基上移除硫酯连接的脂肪酰基团，如棕榈酸。这个基因的缺陷是婴儿神经性角质脂褐质病1（CLN1，或INCL）和神经性角质脂褐质病4（CLN4）的原因。这个基因发现了两种编码不同异构体的转录变体。[由RefSeq在2008年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PPT1 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
