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FLASH GENE
Symbol HACD1 contributors: mct - updated : 04-02-2020
HGNC name 3-hydroxyacyl-CoA dehydratase 1
HGNC id 9639
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • leucine and valine rich domains
  • a N terminal nuclear localization signal (NLS)
  • a catalytic motif with a proline instead of an arginine
    • HOMOLOGY
    interspecies homolog to murine Ptpla
    Homologene
    FAMILY
    CATEGORY enzyme , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    basic FUNCTION
  • playing a role in differentiation and maintenanec of tissue types (myogenesis and cardiogenesis)
  • HACD1 is necessary for muscle function
  • is very effective at inducing bone repair and healing
  • involved in the elongation of the very long chain fatty acids, in muscle fibre formation
  • HACD1 promotes myoblast fusion during muscle development and regeneration
  • is a key regulator of a lipid-dependent muscle fibre growth mechanism
  • has a role in early myogenesis, and in maintaining skeletal muscle membrane systems
  • HACD1 and HACD2 exhibit redundant activities in a wide range of fatty acids (FAs) elongation pathways, including those for saturated to polyunsaturated FAs, with HACD2 being the major 3-hydroxyacyl-CoA dehydratase
    • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • regulates myoblast proliferation and differentiation through MYOG and the cell cycling signaling pathway
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CNM7
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS