Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2

Hum Mol Genet. 2003 Sep 15;12(18):2369-78. doi: 10.1093/hmg/ddg235. Epub 2003 Jul 15.


Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33-35. We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. The mutations were homozygous in eight consanguineous families and heterozygous in one non-consanguineous family. Four of these mutations are localized in the first ATP-binding domain (nucleotide-binding fold), which is highly conserved in all ABC proteins. The ABCA12 protein belongs to a superfamily of membrane proteins that translocate a variety of substrates across extra- and intracellular membranes. ABCA transporters have been implicated in several autosomal recessive disorders, notably of lipid metabolism. By analogy with ABCA3, a lamellar body membrane protein in lung alveolar type II cells, ABCA12 could function in cellular lipid trafficking in keratinocytes.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blacks
  • Cells, Cultured
  • Chromosomes, Human, Pair 2
  • Consanguinity
  • DNA Mutational Analysis
  • Family
  • Female
  • Gene Expression
  • Genes, Recessive
  • Genetic Linkage
  • Genetic Markers
  • Haplotypes
  • Humans
  • Ichthyosis, Lamellar / classification
  • Ichthyosis, Lamellar / genetics*
  • Keratinocytes / metabolism
  • Linkage Disequilibrium
  • Male
  • Membrane Transport Proteins / genetics*
  • Microsatellite Repeats
  • Models, Biological
  • Molecular Sequence Data
  • Mutation, Missense*
  • Pedigree
  • RNA, Messenger / genetics
  • Sequence Analysis


  • Genetic Markers
  • Membrane Transport Proteins
  • RNA, Messenger

Associated data

  • GENBANK/AX587156