ABCA12 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ABCA12 wild-type allele is located in the vicinity of 2q35 and is approximately 207 kb in length. This allele, which encodes glucosylceramide transporter ABCA12 protein, plays a role in both the membrane localization of glucosylceramide and other lipids in lamellar granules and in cholesterol transport. Mutation of the gene is associated with autosomal recessive congenital ichthyosis (ARCI) types 4A and 4B (harlequin).

**Synonyms:** - ABC12 - ARCI4A - ARCI4B - ATP Binding Cassette Subfamily A Member 12 wt Allele - ATP-Binding Cassette, Sub-Family A (ABC1), Member 12 Gene - ATP-Binding Cassette, Subfamily A, Member 12 Gene - DKFZP434G232 - ICR2B - Ichthyosis Congenita II, Lamellar Ichthyosis B Gene - LI2