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FLASH GENE
Symbol LRP12 contributors: mct - updated : 06-04-2022
HGNC name low density lipoprotein-related protein 12
HGNC id 31708
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a five fold cysteine-rich repeat homolog to the ligand binding repeat of LDLR
  • an hydrophobic stretch
  • a cytoplasmic domain containing several motifs implicated in endocytosis and signal transduction
  • two CUB domains
  • five LDL-receptor class A domains
  • a C terminal domain of 343 residues
    • HOMOLOGY
    Homologene
    FAMILY subfamily of the LDLR superfamily
    CATEGORY receptor
    SUBCELLULAR LOCALIZATION     plasma membrane
    text membrane protein type 2
    basic FUNCTION
  • putative ST7 receptor protein, with potential role in the transformation process of cells
  • may function as an oncogene in oral tumors
  • is involved in brain development
  • LRP12 and lipoprotein homeostasis are potential molecular target structures for the emergence of epilepsy-associated Focal cortical dysplasias (FCDs)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component protein constituent of transmembrane
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) OPDM1 , ALS28
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    in oral squamous cell carcinomas
    tumoral     --low  
    by hypermethylation in B-cell lymphoma
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
  • represent promising epigenetic markers which may be suitable for monitoring of B-cell lymphoma
    • Therapy target
    ANIMAL & CELL MODELS