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中文人类
LIPA - Lipase A, Lysosomal Acid Type
Alias:
LAL
CESD
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这个基因编码脂酶A，一种溶酶酸性脂酶（也称为胆固醇酯水解酶）。这种酶在溶酶体中发挥作用，催化胆固醇酯和甘油三酯的水解。这个基因的突变可能导致沃尔曼病和胆固醇酯储存病。已经发现了这个基因的可变剪接转录变异体。[由RefSeq，2014年1月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
LIPA 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
