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中文人类
CLN8 - CLN8 Transmembrane ER And ERGIC Protein
Alias:
EPMR
TLCD6
C8orf61
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这个基因编码一个属于含有TLC结构域的蛋白质家族的跨膜蛋白，推测在脂质合成、运输或感知中发挥作用。该蛋白定位在内质网（ER）中，并在ER和ER-高尔基体中间腔之间循环。这个基因的突变与一种以进行性癫痫和认知障碍（EPMR）为特征的疾病相关，这是神经节苷脂症（NCL）的一个亚型。这个基因突变的患者的脑内鞘脂和磷脂水平发生改变。[RefSeq,2017年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CLN8 Genetics information (+)
GRCh38
Sequence Homology
Related Diseases and Mutations
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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
