Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol HMBS contributors: mct - updated : 15-11-2023
HGNC name hydroxymethylbilane synthase
HGNC id 4982
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