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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
SRGN - Serglycin
Alias:
PPG
PRG
PRG1
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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最为人所知的是作为造血细胞颗粒蛋白聚糖。许多造血细胞的分泌颗粒中也含有抗蛋白酶肽核心,这可能对中和水解酶很重要。这个编码的蛋白质被发现与granzymes和perforin的大分子复合物相关,这可能作为颗粒介导的凋亡的介质。已经发现这个基因有两个转录变异体,但只有一个是蛋白质编码的。[由RefSeq,2010年7月提供]
Related ID:
NCBI:5552
ENSEMBL:ENSG00000122862
HGNC:9361
UNIPROT:P10124
OMIM:177040
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5552
3
3
17209 bp
17.65
4
--
4
15
SRGN 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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* This data comes from NCBI.
Gene Expression
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Name
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Status
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Link
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References Literature
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No Data Found!
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