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GENATLAS PHENOTYPE
last update : 27/06/2006
Symbol EBJ1B
Location 1q32
Name epidermolysis bullosa junctional, Herlitz type
Other name(s) epidermolysis bullosa letalis
Corresponding gene LAMB3
Other symbol(s) EBJ1B1
Main clinical features
  • skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane.
  • the Herlitz type is more severe and often results in early death
    • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name laminin 5, beta 3 polypeptide subunit
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    other   abnormal protein/loss of function hot-spot Q373X, recurrent mutations R635X, 29insC, non-sens or frameshift mutation
    deletion   abnormal protein/loss of function  
          a case resulting from uniparental maternal isodisomy
    Remark(s) mutations in any 1 of the 3 genes encoding the subunits of laminin-5: alpha-3 (LAMA3), beta-3 (LAMB3), and gamma-2 (LAMC2)