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中文人类
CLN6 - CLN6 Transmembrane ER Protein
Alias:
nclf
CLN4A
CLN6A
HsT18960
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这种基因是与神经线粒体脂褐质沉积症（NCL）相关的八种基因之一。NCL也被称为巴滕病，是一类影响儿童的常染色体隐性神经退行性疾病。负责这些疾病的基因可能编码参与溶酶体内翻译后修饰蛋白质降解的蛋白质。NCL疾病的主要缺陷被认为与溶酶体储存功能有关。[RefSeq，2008年10月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
CLN6 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
