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中文人类
ITPA - Inosine Triphosphatase
Alias:
DEE35
My049
ITPase
NTPase
C20orf37
dJ794I6.3
HLC14-06-P
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这个基因编码一个肌苷三磷酸焦磷酸水解酶。编码的蛋白质将肌苷三磷酸和脱氧肌苷三磷酸水解成单磷酸核苷酸和双磷酸。这个蛋白质是HAM1 NTPase蛋白家族的成员，存在于细胞质中，作为同源二聚体发挥作用。编码蛋白质的缺陷可能导致肌苷三磷酸焦磷酸酶缺乏，导致红细胞中ITP的积累。交替剪接导致多个转录变异体。[RefSeq,2012年6月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
ITPA 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
