Log In|Sign Up
中文人类
NPC2 - NPC Intracellular Cholesterol Transporter 2
Alias:
HE1
EDDM1
Favorite
这个基因编码一个含有脂质识别结构域的蛋白质。编码的蛋白质可能参与调节胆固醇通过晚内体/溶酶体的运输过程。这个基因的突变与尼曼-匹克病，C2型以及额叶萎缩有关。[参考序列提供，2008年7月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
NPC2 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
