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The membrane-associated protein encoded by ABCA12 is a member of the superfamily of ATP-binding cassette (ABC) transporters. Zusätzlich bieten wir Ihnen ABCA12 Antikörper (37) und und viele weitere Produktgruppen zu diesem Protein an.
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The morphological findings are akin to epidermal changes in harlequin ichthyosis and CEDNIK syndrome, autosomal recessive keratinization disorders due to mutations in the ABCA12 and SNAP29 genes, respectively.
two missense ABCA12 mutations were uncovered in both of the affected brothers.
we identified three novel mutations and one reported mutation in the TGM1 (zeige TGM1 ELISA Kits) and ABCA12 genes, respectively, in affected siblings of five Saudi unrelated families
Genes ABCC7 (zeige CFTR ELISA Kits), A3, A8, A12 (zeige UGT1A9 ELISA Kits), and C8 prevailed among the most upregulated or downregulated ones. In conclusion, the results supported our theory about general adenosine triphosphate-binding cassette gene expression profiles and their importance for cancer on clinical as well as research levels.
Autosomal recessive inheritance of mutations in the ATP-binding cassette, subfamily A (zeige CYP ELISA Kits), member 12 (ABCA12, OMIM*607800, chromosome 2q35) gene was found to be responsible for the disease.
Identification of the key promoter element of ABCA12 in this study may provide relevant information for genetic diagnosis of recessive congenital ichthyosis.
Ssnger sequencing of the parents of neonates deceased patients with Harlequin ichthyosis (zeige CST6 ELISA Kits) identified novel mutations in ABCA12 gene.
ABCA12 mutations result in defective lipid transport via lamellar granules in the keratinocytes, leading to ichthyosis phenotypes from malformation of the stratum corneum lipid barrier.
Report a consanguineous family of Arab Muslim origin with several members displaying a severe form of congenital ichthyosiform erythroderma. Identified a region of homozygosity shared by all patients on 2q34, in a region harbouring the ABCA12 gene.
We show that homozygosity for a novel c.4676G>T transition in the ABCA12 gene, resulting in a p.G1559V substitution, causes non-bullous congenital ichthyosiform erythroderms in 5 members of an extended family.
The authors report on a 2282del4 mutation that may be associated with ichthyosis vulgaris in a Pakistani population.
these findings suggest an essential role for ABCA12 in transferring not only lipids, which are required for the formation of multilamellar structures in the stratum corneum, but also proteolytic enzymes that are required for normal desquamation.
Data indicate that ABC transporter A family member 12 knockout (Abca12(-/-)) epidermis had 5-fold more beta-glucocerebrosidase (GCase (zeige GBA ELISA Kits)) protein, and a 5-fold increase in GCase (zeige GBA ELISA Kits) activity.
ABCA12 regulates the cellular cholesterol metabolism via an LXRbeta (zeige NR1H2 ELISA Kits)-dependent posttranscriptional mechanism.
Results indicate that disrupted keratinocyte differentiation during the fetal development is involved in the pathomechanism of HI and, during maturation, Abca12(-/-) epidermal keratinocytes regain normal differentiation processes.
ABCA12 plays pivotal roles in lung and skin barrier functions in Harlequin ichthyosis (zeige CST6 ELISA Kits) disease midel.
Abca12 is a regulator of lipid transport and homeostasis.
ABCA12 activity is required for the generation of long-chain ceramide esters that are essential for the development of normal skin structure and function
The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants.
ATP-binding cassette, sub-family A (ABC1), member 12
, ATP-binding cassette, sub-family A, member 12
, ATP-binding cassette sub-family A member 12
, ATP-binding cassette sub-family A member 12-like
, ATP-binding cassette transporter 12