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FLASH GENE
Symbol HPDL contributors: mct - updated : 30-09-2020
HGNC name 4-hydroxyphenylpyruvate dioxygenase-like
HGNC id 28242
Corresponding disease
HPDLD HPDL deficiency
Location 1p34.1      Physical location : 45.792.544 - 45.794.344
Synonym name glyoxalase domain containing 1
Synonym symbol(s) MGC15668, RP4-534D1.1, GLOXD1, 4-HPPD-L
DNA
TYPE functioning gene
STRUCTURE 1.00 kb     1 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
1 - 1785 39 371 - 2020 32707086
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivestomach    
Reproductivefemale systemplacenta   
 female systemuteruscervix  
cell lineage
cell lines
fluid/secretion blood
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
  • 4HPPD family
  • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    text
  • is a mitochondrial protein
  • basic FUNCTION
  • encodes a protein that may function like 4-hydroxyphenylpyruvate dioxygenase
  • is an important enzyme in the catabolic pathway of tyrosine in the liver
  • might play a role in oxidative phosphorylation (OXPHOS)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HPDLD
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    HPDL were down-regulated in HCC (hepatocellular carcinoma)cell lines through promoter methylation
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS