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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
NAPSA - Napsin A Aspartic Peptidase
Alias:
KAP
Kdap
NAP1
NAPA
SNAPA
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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A1家族的天冬氨酸蛋白酶成员。编码的前原蛋白在蛋白水解过程中被加工,生成一个激活肽和成熟的蛋白酶。天冬氨酸蛋白酶的激活肽作为蛋白酶活性部位的抑制剂。这些肽段,或称为前部分,被认为对于天冬氨酸蛋白酶酶原的正确折叠、定位和激活控制非常重要。编码的蛋白酶可能参与肺表面活性蛋白B在肺部的蛋白水解加工,并可能在肾近端小管中的蛋白质分解代谢中发挥作用。这个基因已被描述为肺腺癌和肾细胞癌的标志物。[RefSeq,2016年2月提供]
Related ID:
NCBI:9476
ENSEMBL:ENSG00000131400
HGNC:13395
UNIPROT:O96009
OMIM:605631
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
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Reference
9476
2
9
7163 bp
45.39
26
--
2
5
NAPSA 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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No data available
* This data comes from NCBI.
Gene Expression
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