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FLASH GENE
Symbol MAB21L1 contributors: mct - updated : 23-08-2012
HGNC name mab-21-like 1 (C. elegans)
HGNC id 6757
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
interspecies homolog to C.elegans cell fate determining gene mab-21
Homologene
FAMILY
CATEGORY regulatory
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
basic FUNCTION
  • may be involved in eye and cerebellum development
  • its expression dependent on PAX6 is essential for lens placode growth and for formation of the lens vesicleand its absence causes reduced expression of FOXE3 in a cell-autonomous manner
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with ELF4 (is involved in PTH suppression of osteoblasts through activating the MAP2K4/MAPK8 pathway and subsequently up-regulating MAB21L1 expression
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism other highly polymorphic CAG repeat(from 5 to 31 triplets), transmitted unstably between generation, exhibiting somatic mosaicism, but not correlated to a clinical phenotype
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS