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FLASH GENE
Symbol CFHR4 contributors: mct - updated : 15-09-2021
HGNC name complement factor H-related 4
HGNC id 16979
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a 19 amino acid signal peptide
  • four N-linked glycosylation sites
  • five short consensus repeats (SCRs)
  • five CCP (complement control protein) domains
    • conjugated LipoP
    mono polymer homomer , dimer
    HOMOLOGY
    Homologene
    FAMILY
  • factor H protein family
    • CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION extracellular
    text secreted in plasma
    basic FUNCTION
  • lipid transporter activity
  • enhancing the cofactor activity of factor H in C3b inactivation
  • FHR4 is a key molecular player contributing to complement dysregulation in Age-related macular degeneration (AMD)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein binding to C3b and C3d
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --over  
    in Age-related macular degeneration (AMD)
    Susceptibility to AMD (age-related macular degeneration)
    Variant & Polymorphism other
  • a rare deletion encompassing CFHR1 and CFHR4 as being protective against AMD
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS