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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
GRN - Granulin Precursor
Alias:
GEP
GP88
PEPI
PGRN
CLN11
PCDGF
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
粒细胞素是一家族分泌的、糖基化的肽,从具有7.5个高度保守的12个半胱氨酸粒细胞素/上皮样主题的单个前体蛋白中切割而成。88kDa的前体蛋白,progranulin,也被称为proepithelin和PC细胞衍生的生长因子。信号肽的切割产生成熟的粒细胞素,其可以进一步切割成各种活性、6kDa的肽。这些较小的切割产物被称为粒细胞素A、粒细胞素B、粒细胞素C等。上皮样1和2分别与粒细胞素A和B同义。肽和完整的粒细胞素蛋白都调节细胞生长。然而,粒细胞素蛋白家族的成员可能作为抑制剂、刺激剂或对细胞生长的双重作用。粒细胞素家族成员在正常发育、创伤愈合和肿瘤发生中起着重要作用。[由RefSeq,2008年7月提供]
Related ID:
NCBI:2896
ENSEMBL:ENSG00000030582
HGNC:4601
UNIPROT:P28799
OMIM:138945
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
2896
1
13
7805 bp
63.54
582
9
19
28
GRN Genetics information (+)
GRCh38
Sequence Homology
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* This data comes from NCBI.
Gene Expression
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