ATP Binding Cassette Transporter A12 (ABCA12)
[Edit]ABC-A12; LI2; ICR2B; Ichthyosis Congenita II,Lamellar Ichthyosis B; ATP-binding cassette sub-family A member 12
ABCA12 is a gene that belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes. The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver. The ABCA12 protein appears to be essential for normal development of the skin, which provides a barrier between the body and its surrounding environment. Although the exact function of the protein is unknown, researchers suggest that it probably plays an important role in transporting lipids (fats) in cells that make up the outermost layer of skin (the epidermis).The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPC521Hu01 | Recombinant ATP Binding Cassette Transporter A12 (ABCA12) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAC521Hu01 | Polyclonal Antibody to ATP Binding Cassette Transporter A12 (ABCA12) | WB |
Assay Kits | SEC521Hu | ELISA Kit for ATP Binding Cassette Transporter A12 (ABCA12) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant ATP Binding Cassette Transporter A12 (ABCA12) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to ATP Binding Cassette Transporter A12 (ABCA12) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to ATP Binding Cassette Transporter A12 (ABCA12) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for ATP Binding Cassette Transporter A12 (ABCA12) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for ATP Binding Cassette Transporter A12 (ABCA12) | ELISA Kit Customized Service Offer |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant ATP Binding Cassette Transporter A12 (ABCA12) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to ATP Binding Cassette Transporter A12 (ABCA12) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to ATP Binding Cassette Transporter A12 (ABCA12) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | n/a | CLIA Kit for ATP Binding Cassette Transporter A12 (ABCA12) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for ATP Binding Cassette Transporter A12 (ABCA12) | ELISA Kit Customized Service Offer |
- "Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34."Cytogenet. Genome Res. 98:169-176(2002) [PubMed] [Europe PMC] [Abstract]
- "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
- "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
- "ABCA12 mutations and autosomal recessive congenital ichthyosis: a review of genotype/phenotype correlations and of pathogenetic concepts."Hum. Mutat. 31:1090-1096(2010) [PubMed] [Europe PMC] [Abstract]
- "Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2."Hum. Mol. Genet. 12:2369-2378(2003) [PubMed] [Europe PMC] [Abstract]
- "Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis." Am. J. Hum. Genet. 76:794-803(2005) [PubMed] [Europe PMC] [Abstract]
- "Compound heterozygous mutations including a de novo missense mutation in ABCA12 led to a case of harlequin ichthyosis with moderate clinical severity."J. Invest. Dermatol. 126:1518-1523(2006) [PubMed] [Europe PMC] [Abstract]
- "ABCA12 is the major harlequin ichthyosis gene." J. Invest. Dermatol. 126:2408-2413(2006) [PubMed] [Europe PMC] [Abstract]
- "Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia."J. Invest. Dermatol. 127:2669-2673(2007) [PubMed] [Europe PMC] [Abstract]
- "Novel compound heterozygous nonsense and missense ABCA12 mutations lead to nonbullous congenital ichthyosiform erythroderma."Br. J. Dermatol. 158:864-867(2008) [PubMed] [Europe PMC] [Abstract]
- "Core signaling pathways in human pancreatic cancers revealed by global genomic analyses." Science 321:1801-1806(2008) [PubMed] [Europe PMC] [Abstract]
- "ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma."J. Invest. Dermatol. 129:2306-2309(2009) [PubMed] [Europe PMC] [Abstract]
- "Non-bullous congenital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12."Eur. J. Dermatol. 22:178-181(2012) [PubMed] [Europe PMC] [Abstract]