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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
GOLGA6A - Golgin A6 Family Member A
Alias:
GLP
GOLGA6
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Basic Information
Sequence Homology
Related Diseases and Mutations
Transcripts & Proteins
Gene Expression
Interactions
Related Mouse Models
Related Drugs
References Literature
高尔基体参与分泌途径中的糖基化和蛋白质、脂质运输,由一系列堆叠的顺面小囊(扁平膜囊)组成。高尔基体与微管蛋白之间的相互作用被认为在有丝分裂过程中高尔基体分裂后重组中很重要。此基因编码的蛋白质是golgin家族蛋白质的成员,该家族的成员定位在高尔基体中。此基因位于一个大型低拷贝重复序列或复制子中,该序列在染色体15上以多个大于90%相似的副本存在。复制子与导致基因组疾病的缺失、倒位和其他染色体重排有关。此基因编码的蛋白质被认为是功能性golgin蛋白质,而此基因的大部分相关副本被认为是假基因。[由RefSeq,2008年7月提供]
Related ID:
NCBI:342096
ENSEMBL:ENSG00000159289
HGNC:13567
UNIPROT:Q9NYA3
OMIM:610288
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
342096
1
18
12694 bp
79.95
25
--
--
4
GOLGA6A 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
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
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Interactions
Reset
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
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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