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References OMIM Gene GeneReviews HGMD HGNC
last update : 28-09-2013
Symbol ARCI4A
Location 2q35
HGNC id 5353
Name ichthyosis, congenital, autosomal recessive 4A
Other name(s) ichthyosis congenital lamellar 2
Corresponding gene ABCA12
Other symbol(s) LIR2, LI2, ICR2B
Main clinical features
  • disorders of keratinization characterized primarily by abnormal skin scaling over the whole body
  • main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE)
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    Type disease
    Gene product
    Name ATP-binding cassette, sub-family A (ABC1), member 12