" /> ABCA12 wt Allele - CISMeF





Preferred Label : ABCA12 wt Allele;

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

NCIt 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).;

NCI Metathesaurus CUI : CL1905165;

GenBank Accession Number : AF418105;

Détails


Vous pouvez consulter :


Nous contacter.
31/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.