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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
人类
PARL - Presenilin Associated Rhomboid Like
Alias:
PSARL
PSARL1
RHBDS1
PRO2207
PSENIP2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个定位在内质网膜上的菱形家族丝氨酸蛋白酶成员,该成员位于线粒体内膜。编码的蛋白质通过调节底物蛋白水解来调节线粒体重构和凋亡。编码蛋白质的蛋白水解过程导致一个小肽P-beta的释放,它可能转运到细胞核。这个基因的突变可能与帕金森病有关。[RefSeq提供,2016年5月]
Related ID:
NCBI:55486
ENSEMBL:ENSG00000175193
HGNC:18253
UNIPROT:Q9H300
OMIM:607858
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
55486
13
10
58392 bp
42.19
11
--
5
10
PARL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
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Journal
Year
IF
No Data Found!
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