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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
UCHL1 - Ubiquitin C-terminal Hydrolase L1
Alias:
NDGOA
PARK5
PGP95
SPG79
PGP9.5
SPG79A
UCHL-1
Uch-L1
HEL-117
PGP 9.5
HEL-S-53
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码的蛋白质属于肽酶C12家族。这种酶是一种巯基蛋白酶,能在泛素的C端甘氨酸处水解肽键。这个基因在神经元中和弥漫性神经内分泌系统的细胞中特异性表达。这个基因的突变可能与帕金森病有关。[参考序列提供,2009年9月]
Related ID:
NCBI:7345
ENSEMBL:ENSG00000154277
HGNC:12513
UNIPROT:P09936
OMIM:191342
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
7345
1
9
11528 bp
24.82
141
4
11
31
UCHL1 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
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Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
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Acting
Regulation
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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IF
No Data Found!
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