Log In|Sign Up
中文人类
ENPP1 - Ectonucleotide Pyrophosphatase/phosphodiesterase 1
Alias:
M6S1
NPP1
NPPS
PC-1
PCA1
ARHR2
COLED
PDNP1
Favorite
这个基因是ecto-核苷酸焦磷酸酶/磷酸二酯酶(ENPP)家族的成员。编码的蛋白质是II型跨膜糖蛋白，由两个相同的二硫键连接的亚基组成。这种蛋白质具有广泛的特殊性，可以切割各种底物，包括核苷酸的磷酸二酯键和核苷酸糖的焦磷酸键。这种蛋白质可能具有将核苷酸5'三磷酸酶水解为其相应的单磷酸酶的功能，也可能水解二腺苷酸聚磷酸。这个基因的突变与特发性婴儿动脉钙化、脊柱后纵韧带骨化(OPLL)和胰岛素抵抗有关。[RefSeq,2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ENPP1 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
