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中文人类
HPDL - 4-hydroxyphenylpyruvate Dioxygenase Like
Alias:
SPG83
GLOXD1
NEDSWMA
4-HPPD-L
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这个内含子缺失基因编码的蛋白质定位在线粒体，可能作为4-羟基苯基丙酮酸双氧酶发挥作用。临床研究已经发现了这个基因中的几个双等位基因变异，这些变异降低了编码的蛋白质水平，并导致了儿童期发作的痉挛性运动障碍的临床可变形式。[由RefSeq提供，2020年8月]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Mouse Models
Reference
HPDL 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
