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中文人类
PSAP - Prosaposin
Alias:
GLBA
SAP1
SAP2
PSAPD
PARK24
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这个基因编码一个高度保守的预前蛋白，通过蛋白水解过程生成四个主要切割产物，包括saposin A、B、C和D。前体蛋白的每个结构域长约80个氨基酸残基，半胱氨酸残基和糖基化位点的排列非常相似。saposin A-D主要定位在溶酶体腔内，促进具有短低聚糖基团的糖鞘脂的分解代谢。前体蛋白既作为分泌蛋白又作为整合膜蛋白存在，并具有神经营养活性。这个基因的突变与高雪氏病和异染性白病有关。可选的剪接导致多个转录变异体，至少其中一个编码经过蛋白水解处理的异构体。[由RefSeq，2016年2月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PSAP 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
