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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
PAM - Peptidylglycine Alpha-amidating Monooxygenase
Alias:
PAL
PHM
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个多功能蛋白质。编码的前原蛋白质在蛋白水解过程中被加工成成熟的酶。这种酶包括两个具有不同催化活性的结构域,一个肽基甘氨酸α-羟化单加氧酶(PHM)结构域和一个肽基-α-羟基甘氨酸α-酰胺化酶(PAL)结构域。这些催化结构域依次工作,催化神经内分泌肽转化为活性α-酰胺化产物。可变剪接导致多个转录变异体,至少其中一个编码一种经过蛋白水解加工的异构体。[由RefSeq,2016年1月提供]
Related ID:
NCBI:5066
ENSEMBL:ENSG00000145730
HGNC:8596
UNIPROT:P19021
OMIM:170270
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5066
56
26
276323 bp
108.33
39
--
7
14
PAM Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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No data available
Transcripts & Proteins
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#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
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Cell-specific RNA expression
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Acting
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Type
Name
MGI
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No data available
Related Drugs
Name
CAS Number
Status
Phase
Link
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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