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中文人类
UPB1 - Beta-ureidopropionase 1
Alias:
BUP1
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这个基因编码一个属于CN水解酶家族的蛋白质。β-尿嘧啶丙酸酶催化嘧啶降解途径中的最后一步。嘧啶碱基尿嘧啶和胸腺嘧啶通过连续的二氢嘧啶脱氢酶（DHPDH）、二氢嘧啶酶（DHP）和β-尿嘧啶丙酸酶（UP）的作用被降解为β-丙氨酸和β-氨基异丁酸，分别。UP缺陷与N-氨酰-β-氨基酸尿症有关，可能导致神经系统活动异常。[由RefSeq，2008年7月提供]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
UPB1 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
