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中文人类
P3H1 - Prolyl 3-hydroxylase 1
Alias:
OI8
GROS1
LEPRE1
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这个基因编码一种属于胶原脯氨酰羟化酶家族的酶。这些酶位于内质网，其活性对于适当的胶原合成和组装是必需的。这个基因的突变与八型先天性骨质疏松症有关。已经描述了三种可变剪接转录变体，编码不同的等位基因。可能还存在其他变体，但其生物学有效性尚未确定。[由RefSeq提供，2011年8月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
P3H1 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
