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中文人类
COG8 - Component Of Oligomeric Golgi Complex 8
Alias:
DOR1
CDG2H
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这个基因编码一个蛋白质，是保守的高尔基(COG)复合物的组成部分，这是一个在高尔基体中起结构作用的多蛋白质复合物，并参与细胞内膜流量和糖蛋白修饰。这个基因的突变导致先天性糖基化障碍，类型IIh，一种以血清蛋白糖基化不足为特征的疾病，其症状包括严重的心理运动迟缓、生长停滞、癫痫发作和对乳制品和小麦产品的不耐受。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
COG8 Genetics information (-)
GRCh38
Sequence Homology
Related Diseases and Mutations
#
Disease
Anatomical Category
Score
Mutations
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon Count
CDS(bp)
Protein
Length(aa)
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Abundance
Alphabetical
Cell-specific RNA expression
Organ
Abundance
Alphabetical
Interactions
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
Related Mouse Models
Type
Name
MGI
Strain of Origin
Publications
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Link
References Literature
Title
PMID
Journal
Year
IF
