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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
PEX6 - Peroxisomal Biogenesis Factor 6
Alias:
PAF2
HMLR2
PAF-2
PBD4A
PDB4B
PXAAA1
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
这个基因编码一个属于ATP酶的AAA家族的成员。这个成员主要是一个细胞质蛋白,在过氧化物酶体蛋白导入中起到直接作用,并且对于PTS1(过氧化物酶体靶向信号1,一个C端的三肽序列ser-lys-leu)受体活性是必需的。这个基因的突变导致过氧化物酶体生物发生障碍的补充组4和补充组6。已经发现这个基因的几个转录变异体编码不同的异构体。[由RefSeq,2015年10月提供]
Related ID:
NCBI:5190
ENSEMBL:ENSG00000124587
HGNC:8859
UNIPROT:Q13608
OMIM:601498
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
5190
5
17
15317 bp
104.06
1468
15
4
20
PEX6 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
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Anatomical Category
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Mutations
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
Tissue-specific RNA expression
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Cell-specific RNA expression
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Type
Name
MGI
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Mutations
No data available
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Name
CAS Number
Status
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Link
No data available
References Literature
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Year
IF
No Data Found!
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