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FLASH GENE
Symbol HMBS contributors: mct - updated : 15-11-2023
HGNC name hydroxymethylbilane synthase
HGNC id 4982
EXPRESSION
Type ubiquitous
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
blood / hematopoieticspleen    
Digestiveliver   highly
Reproductivemale systemprostate  highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Connectivebone   
cells
SystemCellPubmedSpeciesStageRna symbol
not specificadipocyte Homo sapiens
cell lineage erythroid cells
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
porphobilinogen deaminase, dipyromethane cofactor binding domain
HOMOLOGY
interspecies homolog to murine Hmbs
Homologene
FAMILY HMBS family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • catalyzing the the head-to-tail polymerisation of 4 molecules of porphobilinogen to assemble the open chain tetrapyrrole, hydroxymethylbilane
  • third step of porphyrin biosynthesis
  • HMBS increased during differentiation of human adipocytes in parallel to adipogenic genes
  • catalyses the stepwise addition of four molecules of porphobilinogen to form the linear tetrapyrrole 1-hydroxymethylbilane
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism porphyrin/heme
    signaling
    heme biosynthesis
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ACIP
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria