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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
PRCP - Prolylcarboxypeptidase
Alias:
PCP
HUMPCP
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码肽酶S28家族的一员,该家族是丝氨酸外肽酶。编码的前原蛋白在蛋白水解过程中被加工成成熟的溶酶体质子羧肽酶。这种酶切割与肽如血管紧张素II、III和去-Arg9-缓激肽中的脯氨酸连接的C端氨基酸。切割在酸性pH下发生,但酶活性在中性pH下与某些底物保持不变。该酶已被证明是细胞基质相关前激肽释放素的激活剂。这个酶的一种底物,血管紧张素II在调节血压和电解质平衡中的重要性表明,这个基因可能与原发性高血压有关。在这个基因的一个假基因已经在染色体2上被鉴定。选择性剪接导致多个转录变异体,至少其中一个编码被蛋白水解加工的异构体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:5547
ENSEMBL:ENSG00000137509
HGNC:9344
UNIPROT:P42785
OMIM:176785
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5547
4
9
78709 bp
55.80
23
--
8
11
PRCP Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
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No data available
Transcripts & Proteins
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* This data comes from NCBI.
Gene Expression
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