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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
CELA3A - Chymotrypsin Like Elastase 3A
Alias:
ELA3
ELA3A
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
弹性蛋白酶是一种丝氨酸蛋白酶亚家族,除了弹性蛋白外,还能水解许多蛋白质。人类有六个弹性蛋白酶基因,编码结构相似的蛋白质弹性蛋白酶1、2、2A、2B、3A和3B。与其它弹性蛋白酶不同,弹性蛋白酶3A的弹性蛋白水解活性较低。像大多数人类弹性蛋白酶一样,弹性蛋白酶3A从胰腺以酶原形式分泌,并且像其它丝氨酸蛋白酶(如胰蛋白酶、糜蛋白酶和激肽释放酶)一样,在肠道中具有消化功能。弹性蛋白酶3A优先在脯氨酸残基后切割蛋白质。弹性蛋白酶3A也可能在胆固醇的肠道转运和代谢中发挥作用。弹性蛋白酶3A和弹性蛋白酶3B都被称为蛋白酶E和弹性蛋白酶1。[由RefSeq提供,2008年7月]
Related ID:
NCBI:10136
ENSEMBL:ENSG00000142789
HGNC:15944
UNIPROT:P09093
OMIM:618693
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
10136
1
8
10886 bp
29.49
14
--
1
4
CELA3A Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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* This data comes from NCBI.
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