Sequence Detail

ID/Version

E9Q876 (UniProt | EBI)

Last sequence update: 2011-04-05
Last annotation update: 2024-11-27

Sequence description from provider

RecName: Full=Glucosylceramide transporter ABCA12 {ECO:0000305}; EC=7.6.2.1 {ECO:0000250|UniProtKB:Q86UK0};AltName: Full=ATP-binding cassette sub-family A member 12 {ECO:0000305};

Provider

SWISS-PROT

Sequence

Polypeptide 2595 aa

Source

Organism mouse

See UniProt | EBI for source

Annotated genes and markers

Follow the symbol links to get more information on the GO terms, expression assays, orthologs, phenotypic alleles, and other information for the genes or markers below.

Type	Symbol	Name	GO Terms	Expression Assays	Orthologs	Phenotypic Alleles
Gene	Abca12	ATP-binding cassette, sub-family A member 12	73	103	3	15

Sequence references in MGI

J:139048 Yanagi T, et al., Harlequin ichthyosis model mouse reveals alveolar collapse and severe fetal skin barrier defects. Hum Mol Genet. 2008 Oct 1;17(19):3075-83
J:144062 Zuo Y, et al., ABCA12 Maintains the Epidermal Lipid Permeability Barrier by Facilitating Formation of Ceramide Linoleic Esters. J Biol Chem. 2008 Dec 26;283(52):36624-35
J:161652 Smyth I, et al., A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet. 2008;4(9):e1000192
J:162119 Yanagi T, et al., Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice. Am J Pathol. 2010 Jul;177(1):106-18
J:200990 Fu Y, et al., ABCA12 regulates ABCA1-dependent cholesterol efflux from macrophages and the development of atherosclerosis. Cell Metab. 2013 Aug 6;18(2):225-38
J:208287 Haller JF, et al., Endogenous beta-glucocerebrosidase activity in Abca12(-)/(-)epidermis elevates ceramide levels after topical lipid application but does not restore barrier function. J Lipid Res. 2014 Mar;55(3):493-503
J:262458 Zhang L, et al., Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis. PLoS One. 2016;11(8):e0161465
J:285784 Ursino GM, et al., ABCA12 regulates insulin secretion from beta-cells. EMBO Rep. 2020 Mar 4;21(3):e48692