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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
APEH - Acylaminoacyl-peptide Hydrolase
Alias:
APH
OPH
AARE
ACPH
D3S48E
D3F15S2
DNF15S2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码酰肽水解酶,该酶优先水解小型乙酰化肽中的末端乙酰化氨基酸。通过这个水解酶形成的乙酰氨基酸进一步被氨基酰基酶加工成乙酸和自由氨基酸。这个基因位于染色体3号染色体区段(3p21)与氨基酰基酶基因相同的位置,该位置的缺失也与氨基酰基酶活性降低有关。酰肽水解酶是一种300kDa的同源四聚体蛋白,每个亚单位由732个氨基酸残基组成。它可以在活细胞中破坏氧化损伤的蛋白质中发挥重要作用。这个基因座缺失在各种类型的癌(如小细胞肺癌和肾细胞癌)中都有发现。[由RefSeq,2008年7月提供]
Related ID:
NCBI:327
ENSEMBL:ENSG00000164062
HGNC:586
UNIPROT:P13798
OMIM:102645
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
327
6
22
10855 bp
81.22
25
--
4
16
APEH Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
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CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
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Type
Name
MGI
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Name
CAS Number
Status
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Link
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References Literature
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