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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
SPPL2A - Signal Peptide Peptidase Like 2A
Alias:
IMP3
PSL2
IMD86
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码天冬氨酸蛋白酶GXGD家族的一员,这是一个跨膜蛋白,其两个保守的催化基序位于膜贯穿区域,同时也是信号肽肽基肽酶-样蛋白酶(SPPL)家族的成员。这个蛋白在所有主要的人类成人组织中表达,并定位在晚期内体囊泡和溶酶体膜上。这个基因的假基因也在染色体15上。[RefSeq,2012年2月提供]
Related ID:
NCBI:84888
ENSEMBL:ENSG00000138600
HGNC:30227
UNIPROT:Q8TCT8
OMIM:608238
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
84888
4
15
63441 bp
58.14
199
1
10
14
SPPL2A Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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Transcript
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Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Name
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References Literature
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No Data Found!
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