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GENATLAS PHENOTYPE
last update : 30-08-2013
Symbol XPB
Location 2q21
Name xeroderma pigmentosum, complementation group B
Corresponding gene ERCC3
Main clinical features
  • with/without Cockayne syndrome
  • lack of most ultrahigh-sulfur keratin associated proteins and brittle hair, sun sensitivity, ichthyosis, impaired intelligence, decreased fertility, short stature (IBIDS, OMIM 601675 )
    • Genetic determination autosomal recessive
    Related entries including trichothiodystrophy
    Function/system disorder dermatology
    Type disease
    Gene product
    Name DNA helicase, ERCC3 component (nucleotide excision repair) differentially mutated in XP/CS and in TTD
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein with severe form
    Remark(s)
    Genotype/Phenotype correlations associated with partially active missense mutations in milder patients while severe XP/CS complex patients have nonsense mutations in both alleles with low levels of altered XPB proteins