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中文人类
DDHD2 - DDHD Domain Containing 2
Alias:
SPG54
p125B
SAMWD1
iPLA1A
iPLA1gamma
iPLA(1)gamma
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这个基因编码一个含有无菌-alpha-motif（SAM）、WWE和DDHD结构域的磷脂酶酶。这种蛋白质参与内质网和高尔基体之间的膜运输。这个基因的突变可能导致常染色体隐性痉挛性截瘫54。替代剪接导致多个转录变异体。[由RefSeq，2013年12月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
DDHD2 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
