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中文人类
PNP - Purine Nucleoside Phosphorylase
Alias:
NP
PUNP
PRO1837
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这个基因编码一种可逆地催化嘌呤核苷酸磷酸解的酶。这种酶是三聚体，包含三个相同的亚基。导致核苷酸磷酸酶缺乏的突变会导致T细胞（细胞介导的）免疫缺陷，但也可能影响B细胞免疫和抗体反应。患有免疫缺陷的患者可能还会出现神经障碍。已经描述了一种位于第51位氨基酸位置的已知多态性，它不影响酶活性。在染色体2上发现了一个假基因。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
PNP 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
