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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
PHYKPL - 5-phosphohydroxy-L-lysine Phospho-lyase
Alias:
PHLU
AGXT2L2
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这是一种编码线粒体酶的核基因,该酶催化5-磷酰氧-L-赖氨酸转化为氨、无机磷酸盐和2-氨基己二醛。该基因的突变可能导致磷酸羟基赖氨酸尿。替代剪接导致多个转录变异体。[由RefSeq提供,2013年5月]
Related ID:
NCBI:85007
ENSEMBL:ENSG00000175309
HGNC:28249
UNIPROT:Q8IUZ5
OMIM:614683
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
85007
22
13
25679 bp
49.71
39
1
4
7
PHYKPL Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
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
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Alphabetical
Cell-specific RNA expression
Organ
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Interactions
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Acting
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Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
No data available
Related Drugs
Name
CAS Number
Status
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Link
No data available
References Literature
Title
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No Data Found!
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